SNP Links for Protein (Select 239582769) - SNP

Links from Protein

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Select item 14905424951.

rs1490542495 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:42698756 (GRCh38)
3:42740248 (GRCh37)
Canonical SPDI:: NC_000003.12:42698755:G:A
Gene:: HHATL (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,intron_variant
HGVS:: NC_000003.12:g.42698756G>A, NC_000003.11:g.42740248G>A, NM_020707.4:c.435C>T, NM_020707.3:c.435C>T, XM_011533969.3:c.504C>T, XM_011533969.2:c.504C>T, XM_011533969.1:c.504C>T, XM_006713274.3:c.435C>T, XM_006713274.2:c.435C>T, XM_006713274.1:c.435C>T, XM_017006936.2:c.435C>T, XM_017006936.1:c.435C>T, NR_027753.2:n.582C>T, NR_027753.1:n.582C>T, XM_017006935.2:c.504C>T, XM_017006935.1:c.504C>T, XM_047448634.1:c.504C>T, XM_047448635.1:c.504C>T, XM_047448636.1:c.504C>T

Select item 14880149632.

rs1488014963 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:42699773 (GRCh38)
3:42741265 (GRCh37)
Canonical SPDI:: NC_000003.12:42699772:G:T
Gene:: HHATL (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,stop_gained
HGVS:: NC_000003.12:g.42699773G>T, NC_000003.11:g.42741265G>T, NM_020707.4:c.159C>A, NM_020707.3:c.159C>A, XM_011533969.3:c.228C>A, XM_011533969.2:c.228C>A, XM_011533969.1:c.228C>A, XM_006713274.3:c.159C>A, XM_006713274.2:c.159C>A, XM_006713274.1:c.159C>A, XM_011533970.3:c.228C>A, XM_011533970.2:c.228C>A, XM_011533970.1:c.228C>A, XM_006713275.3:c.159C>A, XM_006713275.2:c.159C>A, XM_006713275.1:c.159C>A, XM_017006936.2:c.159C>A, XM_017006936.1:c.159C>A, NR_027753.2:n.306C>A, NR_027753.1:n.306C>A, XM_017006935.2:c.228C>A, XM_017006935.1:c.228C>A, XM_017006938.2:c.159C>A, XM_017006938.1:c.159C>A, XM_047448634.1:c.228C>A, XM_047448635.1:c.228C>A, XM_047448636.1:c.228C>A, NP_065758.3:p.Tyr53Ter, XP_011532271.1:p.Tyr76Ter, XP_006713337.1:p.Tyr53Ter, XP_011532272.1:p.Tyr76Ter, XP_006713338.1:p.Tyr53Ter, XP_016862425.1:p.Tyr53Ter, XP_016862424.1:p.Tyr76Ter, XP_016862427.1:p.Tyr53Ter, XP_047304590.1:p.Tyr76Ter, XP_047304591.1:p.Tyr76Ter, XP_047304592.1:p.Tyr76Ter

Select item 14848494573.

rs1484849457 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:42696859 (GRCh38)
3:42738351 (GRCh37)
Canonical SPDI:: NC_000003.12:42696858:G:A
Gene:: HHATL (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.42696859G>A, NC_000003.11:g.42738351G>A, NM_020707.4:c.1029C>T, NM_020707.3:c.1029C>T, XM_011533969.3:c.1098C>T, XM_011533969.2:c.1098C>T, XM_011533969.1:c.1098C>T, XM_006713274.3:c.1029C>T, XM_006713274.2:c.1029C>T, XM_006713274.1:c.1029C>T, XM_011533970.3:c.903C>T, XM_011533970.2:c.903C>T, XM_011533970.1:c.903C>T, XM_006713275.3:c.834C>T, XM_006713275.2:c.834C>T, XM_006713275.1:c.834C>T, XM_017006936.2:c.1029C>T, XM_017006936.1:c.1029C>T, NR_027753.2:n.1176C>T, NR_027753.1:n.1176C>T, XM_017006935.2:c.1098C>T, XM_017006935.1:c.1098C>T, XM_017006938.2:c.834C>T, XM_017006938.1:c.834C>T, XM_047448634.1:c.1098C>T, XM_047448635.1:c.953C>T, XM_047448636.1:c.953C>T, XP_047304591.1:p.Ser318Leu, XP_047304592.1:p.Ser318Leu

Select item 14840809174.

rs1484080917 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:42697511 (GRCh38)
3:42739003 (GRCh37)
Canonical SPDI:: NC_000003.12:42697510:G:A
Gene:: HHATL (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.42697511G>A, NC_000003.11:g.42739003G>A, NM_020707.4:c.862C>T, NM_020707.3:c.862C>T, XM_011533969.3:c.931C>T, XM_011533969.2:c.931C>T, XM_011533969.1:c.931C>T, XM_006713274.3:c.862C>T, XM_006713274.2:c.862C>T, XM_006713274.1:c.862C>T, XM_011533970.3:c.736C>T, XM_011533970.2:c.736C>T, XM_011533970.1:c.736C>T, XM_006713275.3:c.667C>T, XM_006713275.2:c.667C>T, XM_006713275.1:c.667C>T, XM_017006936.2:c.862C>T, XM_017006936.1:c.862C>T, NR_027753.2:n.1009C>T, NR_027753.1:n.1009C>T, XM_017006935.2:c.931C>T, XM_017006935.1:c.931C>T, XM_017006938.2:c.667C>T, XM_017006938.1:c.667C>T, XM_047448634.1:c.931C>T, XM_047448635.1:c.931C>T, XM_047448636.1:c.931C>T, NP_065758.3:p.Leu288Phe, XP_011532271.1:p.Leu311Phe, XP_006713337.1:p.Leu288Phe, XP_011532272.1:p.Leu246Phe, XP_006713338.1:p.Leu223Phe, XP_016862425.1:p.Leu288Phe, XP_016862424.1:p.Leu311Phe, XP_016862427.1:p.Leu223Phe, XP_047304590.1:p.Leu311Phe, XP_047304591.1:p.Leu311Phe, XP_047304592.1:p.Leu311Phe

Select item 14840480025.

rs1484048002 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:42693711 (GRCh38)
3:42735203 (GRCh37)
Canonical SPDI:: NC_000003.12:42693710:A:G
Gene:: HHATL (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.42693711A>G, NC_000003.11:g.42735203A>G, NG_033035.1:g.13193A>G, NM_020707.4:c.1154T>C, NM_020707.3:c.1154T>C, XM_011533969.3:c.1223T>C, XM_011533969.2:c.1223T>C, XM_011533969.1:c.1223T>C, XM_006713274.3:c.1154T>C, XM_006713274.2:c.1154T>C, XM_006713274.1:c.1154T>C, XM_011533970.3:c.1028T>C, XM_011533970.2:c.1028T>C, XM_011533970.1:c.1028T>C, XM_006713275.3:c.959T>C, XM_006713275.2:c.959T>C, XM_006713275.1:c.959T>C, XM_017006936.2:c.1154T>C, XM_017006936.1:c.1154T>C, NR_027753.2:n.1301T>C, NR_027753.1:n.1301T>C, XM_017006935.2:c.1223T>C, XM_017006935.1:c.1223T>C, XM_017006938.2:c.959T>C, XM_017006938.1:c.959T>C, XM_047448634.1:c.*67T>C, XM_047448635.1:c.*67T>C, XM_047448636.1:c.*96T>C, NP_065758.3:p.Ile385Thr, XP_011532271.1:p.Ile408Thr, XP_006713337.1:p.Ile385Thr, XP_011532272.1:p.Ile343Thr, XP_006713338.1:p.Ile320Thr, XP_016862425.1:p.Ile385Thr, XP_016862424.1:p.Ile408Thr, XP_016862427.1:p.Ile320Thr

Select item 14798265536.

rs1479826553 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:42696869 (GRCh38)
3:42738361 (GRCh37)
Canonical SPDI:: NC_000003.12:42696868:T:C
Gene:: HHATL (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000003.12:g.42696869T>C, NC_000003.11:g.42738361T>C, NM_020707.4:c.1019A>G, NM_020707.3:c.1019A>G, XM_011533969.3:c.1088A>G, XM_011533969.2:c.1088A>G, XM_011533969.1:c.1088A>G, XM_006713274.3:c.1019A>G, XM_006713274.2:c.1019A>G, XM_006713274.1:c.1019A>G, XM_011533970.3:c.893A>G, XM_011533970.2:c.893A>G, XM_011533970.1:c.893A>G, XM_006713275.3:c.824A>G, XM_006713275.2:c.824A>G, XM_006713275.1:c.824A>G, XM_017006936.2:c.1019A>G, XM_017006936.1:c.1019A>G, NR_027753.2:n.1166A>G, NR_027753.1:n.1166A>G, XM_017006935.2:c.1088A>G, XM_017006935.1:c.1088A>G, XM_017006938.2:c.824A>G, XM_017006938.1:c.824A>G, XM_047448634.1:c.1088A>G, XM_047448635.1:c.943A>G, XM_047448636.1:c.943A>G, NP_065758.3:p.Asp340Gly, XP_011532271.1:p.Asp363Gly, XP_006713337.1:p.Asp340Gly, XP_011532272.1:p.Asp298Gly, XP_006713338.1:p.Asp275Gly, XP_016862425.1:p.Asp340Gly, XP_016862424.1:p.Asp363Gly, XP_016862427.1:p.Asp275Gly, XP_047304590.1:p.Asp363Gly, XP_047304591.1:p.Thr315Ala, XP_047304592.1:p.Thr315Ala

Select item 14753975397.

rs1475397539 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:42697071 (GRCh38)
3:42738563 (GRCh37)
Canonical SPDI:: NC_000003.12:42697070:C:A
Gene:: HHATL (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.42697071C>A, NC_000003.11:g.42738563C>A, NM_020707.4:c.940G>T, NM_020707.3:c.940G>T, XM_011533969.3:c.1009G>T, XM_011533969.2:c.1009G>T, XM_011533969.1:c.1009G>T, XM_006713274.3:c.940G>T, XM_006713274.2:c.940G>T, XM_006713274.1:c.940G>T, XM_011533970.3:c.814G>T, XM_011533970.2:c.814G>T, XM_011533970.1:c.814G>T, XM_006713275.3:c.745G>T, XM_006713275.2:c.745G>T, XM_006713275.1:c.745G>T, XM_017006936.2:c.940G>T, XM_017006936.1:c.940G>T, NR_027753.2:n.1087G>T, NR_027753.1:n.1087G>T, XM_017006935.2:c.1009G>T, XM_017006935.1:c.1009G>T, XM_017006938.2:c.745G>T, XM_017006938.1:c.745G>T, XM_047448634.1:c.1009G>T, NP_065758.3:p.Ala314Ser, XP_011532271.1:p.Ala337Ser, XP_006713337.1:p.Ala314Ser, XP_011532272.1:p.Ala272Ser, XP_006713338.1:p.Ala249Ser, XP_016862425.1:p.Ala314Ser, XP_016862424.1:p.Ala337Ser, XP_016862427.1:p.Ala249Ser, XP_047304590.1:p.Ala337Ser

Select item 14743803638.

rs1474380363 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:42699135 (GRCh38)
3:42740627 (GRCh37)
Canonical SPDI:: NC_000003.12:42699134:T:G
Gene:: HHATL (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000028/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.42699135T>G, NC_000003.11:g.42740627T>G, NM_020707.4:c.185A>C, NM_020707.3:c.185A>C, XM_011533969.3:c.254A>C, XM_011533969.2:c.254A>C, XM_011533969.1:c.254A>C, XM_006713274.3:c.185A>C, XM_006713274.2:c.185A>C, XM_006713274.1:c.185A>C, XM_011533970.3:c.254A>C, XM_011533970.2:c.254A>C, XM_011533970.1:c.254A>C, XM_006713275.3:c.185A>C, XM_006713275.2:c.185A>C, XM_006713275.1:c.185A>C, XM_017006936.2:c.185A>C, XM_017006936.1:c.185A>C, NR_027753.2:n.332A>C, NR_027753.1:n.332A>C, XM_017006935.2:c.254A>C, XM_017006935.1:c.254A>C, XM_017006938.2:c.185A>C, XM_017006938.1:c.185A>C, XM_047448634.1:c.254A>C, XM_047448635.1:c.254A>C, XM_047448636.1:c.254A>C, NP_065758.3:p.Asp62Ala, XP_011532271.1:p.Asp85Ala, XP_006713337.1:p.Asp62Ala, XP_011532272.1:p.Asp85Ala, XP_006713338.1:p.Asp62Ala, XP_016862425.1:p.Asp62Ala, XP_016862424.1:p.Asp85Ala, XP_016862427.1:p.Asp62Ala, XP_047304590.1:p.Asp85Ala, XP_047304591.1:p.Asp85Ala, XP_047304592.1:p.Asp85Ala

Select item 14731509959.

rs1473150995 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:42693671 (GRCh38)
3:42735163 (GRCh37)
Canonical SPDI:: NC_000003.12:42693670:G:T
Gene:: HHATL (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.42693671G>T, NC_000003.11:g.42735163G>T, NG_033035.1:g.13153G>T, NM_020707.4:c.1194C>A, NM_020707.3:c.1194C>A, XM_011533969.3:c.1263C>A, XM_011533969.2:c.1263C>A, XM_011533969.1:c.1263C>A, XM_006713274.3:c.1194C>A, XM_006713274.2:c.1194C>A, XM_006713274.1:c.1194C>A, XM_011533970.3:c.1068C>A, XM_011533970.2:c.1068C>A, XM_011533970.1:c.1068C>A, XM_006713275.3:c.999C>A, XM_006713275.2:c.999C>A, XM_006713275.1:c.999C>A, XM_017006936.2:c.1194C>A, XM_017006936.1:c.1194C>A, NR_027753.2:n.1341C>A, NR_027753.1:n.1341C>A, XM_017006935.2:c.1263C>A, XM_017006935.1:c.1263C>A, XM_017006938.2:c.999C>A, XM_017006938.1:c.999C>A, XM_047448634.1:c.*107C>A, XM_047448635.1:c.*107C>A, NP_065758.3:p.Asn398Lys, XP_011532271.1:p.Asn421Lys, XP_006713337.1:p.Asn398Lys, XP_011532272.1:p.Asn356Lys, XP_006713338.1:p.Asn333Lys, XP_016862425.1:p.Asn398Lys, XP_016862424.1:p.Asn421Lys, XP_016862427.1:p.Asn333Lys

Select item 147033116910.

rs1470331169 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:42698211 (GRCh38)
3:42739703 (GRCh37)
Canonical SPDI:: NC_000003.12:42698210:G:C
Gene:: HHATL (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.42698211G>C, NC_000003.11:g.42739703G>C, NM_020707.4:c.624C>G, NM_020707.3:c.624C>G, XM_011533969.3:c.693C>G, XM_011533969.2:c.693C>G, XM_011533969.1:c.693C>G, XM_006713274.3:c.624C>G, XM_006713274.2:c.624C>G, XM_006713274.1:c.624C>G, XM_011533970.3:c.498C>G, XM_011533970.2:c.498C>G, XM_011533970.1:c.498C>G, XM_006713275.3:c.429C>G, XM_006713275.2:c.429C>G, XM_006713275.1:c.429C>G, XM_017006936.2:c.624C>G, XM_017006936.1:c.624C>G, NR_027753.2:n.771C>G, NR_027753.1:n.771C>G, XM_017006935.2:c.693C>G, XM_017006935.1:c.693C>G, XM_017006938.2:c.429C>G, XM_017006938.1:c.429C>G, XM_047448634.1:c.693C>G, XM_047448635.1:c.693C>G, XM_047448636.1:c.693C>G

Select item 146604739211.

rs1466047392 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:42696845 (GRCh38)
3:42738337 (GRCh37)
Canonical SPDI:: NC_000003.12:42696844:C:G
Gene:: HHATL (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
G=0.000035/1 (TOMMO)
HGVS:: NC_000003.12:g.42696845C>G, NC_000003.11:g.42738337C>G, NM_020707.4:c.1043G>C, NM_020707.3:c.1043G>C, XM_011533969.3:c.1112G>C, XM_011533969.2:c.1112G>C, XM_011533969.1:c.1112G>C, XM_006713274.3:c.1043G>C, XM_006713274.2:c.1043G>C, XM_006713274.1:c.1043G>C, XM_011533970.3:c.917G>C, XM_011533970.2:c.917G>C, XM_011533970.1:c.917G>C, XM_006713275.3:c.848G>C, XM_006713275.2:c.848G>C, XM_006713275.1:c.848G>C, XM_017006936.2:c.1043G>C, XM_017006936.1:c.1043G>C, NR_027753.2:n.1190G>C, NR_027753.1:n.1190G>C, XM_017006935.2:c.1112G>C, XM_017006935.1:c.1112G>C, XM_017006938.2:c.848G>C, XM_017006938.1:c.848G>C, XM_047448634.1:c.1112G>C, XM_047448635.1:c.967G>C, XM_047448636.1:c.967G>C, NP_065758.3:p.Cys348Ser, XP_011532271.1:p.Cys371Ser, XP_006713337.1:p.Cys348Ser, XP_011532272.1:p.Cys306Ser, XP_006713338.1:p.Cys283Ser, XP_016862425.1:p.Cys348Ser, XP_016862424.1:p.Cys371Ser, XP_016862427.1:p.Cys283Ser, XP_047304590.1:p.Cys371Ser, XP_047304591.1:p.Ala323Pro, XP_047304592.1:p.Ala323Pro

Select item 146574118812.

rs1465741188 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 3:42692751 (GRCh38)
3:42734243 (GRCh37)
Canonical SPDI:: NC_000003.12:42692750:C:G,NC_000003.12:42692750:C:T
Gene:: HHATL (Varview), KLHL40 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,downstream_transcript_variant,terminator_codon_variant,500B_downstream_variant,genic_downstream_transcript_variant,stop_lost
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.42692751C>G, NC_000003.12:g.42692751C>T, NC_000003.11:g.42734243C>G, NC_000003.11:g.42734243C>T, NG_033035.1:g.12233C>G, NG_033035.1:g.12233C>T, NM_020707.4:c.1515G>C, NM_020707.4:c.1515G>A, NM_020707.3:c.1515G>C, NM_020707.3:c.1515G>A, XM_011533969.3:c.1584G>C, XM_011533969.3:c.1584G>A, XM_011533969.2:c.1584G>C, XM_011533969.2:c.1584G>A, XM_011533969.1:c.1584G>C, XM_011533969.1:c.1584G>A, XM_006713274.3:c.1515G>C, XM_006713274.3:c.1515G>A, XM_006713274.2:c.1515G>C, XM_006713274.2:c.1515G>A, XM_006713274.1:c.1515G>C, XM_006713274.1:c.1515G>A, XM_011533970.3:c.1389G>C, XM_011533970.3:c.1389G>A, XM_011533970.2:c.1389G>C, XM_011533970.2:c.1389G>A, XM_011533970.1:c.1389G>C, XM_011533970.1:c.1389G>A, XM_006713275.3:c.1320G>C, XM_006713275.3:c.1320G>A, XM_006713275.2:c.1320G>C, XM_006713275.2:c.1320G>A, XM_006713275.1:c.1320G>C, XM_006713275.1:c.1320G>A, XM_017006936.2:c.1515G>C, XM_017006936.2:c.1515G>A, XM_017006936.1:c.1515G>C, XM_017006936.1:c.1515G>A, NR_027753.2:n.1662G>C, NR_027753.2:n.1662G>A, NR_027753.1:n.1662G>C, NR_027753.1:n.1662G>A, XM_017006935.2:c.1584G>C, XM_017006935.2:c.1584G>A, XM_017006935.1:c.1584G>C, XM_017006935.1:c.1584G>A, XM_017006938.2:c.1320G>C, XM_017006938.2:c.1320G>A, XM_017006938.1:c.1320G>C, XM_017006938.1:c.1320G>A, NP_065758.3:p.Ter505Tyr, XP_011532271.1:p.Ter528Tyr, XP_006713337.1:p.Ter505Tyr, XP_011532272.1:p.Ter463Tyr, XP_006713338.1:p.Ter440Tyr, XP_016862425.1:p.Ter505Tyr, XP_016862424.1:p.Ter528Tyr, XP_016862427.1:p.Ter440Tyr

Select item 146548636213.

rs1465486362 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:42692813 (GRCh38)
3:42734305 (GRCh37)
Canonical SPDI:: NC_000003.12:42692812:C:T
Gene:: HHATL (Varview), KLHL40 (Varview)
Functional Consequence:: non_coding_transcript_variant,downstream_transcript_variant,missense_variant,500B_downstream_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.42692813C>T, NC_000003.11:g.42734305C>T, NG_033035.1:g.12295C>T, NM_020707.4:c.1453G>A, NM_020707.3:c.1453G>A, XM_011533969.3:c.1522G>A, XM_011533969.2:c.1522G>A, XM_011533969.1:c.1522G>A, XM_006713274.3:c.1453G>A, XM_006713274.2:c.1453G>A, XM_006713274.1:c.1453G>A, XM_011533970.3:c.1327G>A, XM_011533970.2:c.1327G>A, XM_011533970.1:c.1327G>A, XM_006713275.3:c.1258G>A, XM_006713275.2:c.1258G>A, XM_006713275.1:c.1258G>A, XM_017006936.2:c.1453G>A, XM_017006936.1:c.1453G>A, NR_027753.2:n.1600G>A, NR_027753.1:n.1600G>A, XM_017006935.2:c.1522G>A, XM_017006935.1:c.1522G>A, XM_017006938.2:c.1258G>A, XM_017006938.1:c.1258G>A, NP_065758.3:p.Glu485Lys, XP_011532271.1:p.Glu508Lys, XP_006713337.1:p.Glu485Lys, XP_011532272.1:p.Glu443Lys, XP_006713338.1:p.Glu420Lys, XP_016862425.1:p.Glu485Lys, XP_016862424.1:p.Glu508Lys, XP_016862427.1:p.Glu420Lys

Select item 146386603614.

rs1463866036 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 3:42700775 (GRCh38)
3:42742267 (GRCh37)
Canonical SPDI:: NC_000003.12:42700774:C:G,NC_000003.12:42700774:C:T
Gene:: HHATL (Varview), HHATL-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00003/1 (ALFA)
HGVS:: NC_000003.12:g.42700775C>G, NC_000003.12:g.42700775C>T, NC_000003.11:g.42742267C>G, NC_000003.11:g.42742267C>T, NM_020707.4:c.52G>C, NM_020707.4:c.52G>A, NM_020707.3:c.52G>C, NM_020707.3:c.52G>A, XM_011533969.3:c.121G>C, XM_011533969.3:c.121G>A, XM_011533969.2:c.121G>C, XM_011533969.2:c.121G>A, XM_011533969.1:c.121G>C, XM_011533969.1:c.121G>A, XM_006713274.3:c.52G>C, XM_006713274.3:c.52G>A, XM_006713274.2:c.52G>C, XM_006713274.2:c.52G>A, XM_006713274.1:c.52G>C, XM_006713274.1:c.52G>A, XM_011533970.3:c.121G>C, XM_011533970.3:c.121G>A, XM_011533970.2:c.121G>C, XM_011533970.2:c.121G>A, XM_011533970.1:c.121G>C, XM_011533970.1:c.121G>A, XM_006713275.3:c.52G>C, XM_006713275.3:c.52G>A, XM_006713275.2:c.52G>C, XM_006713275.2:c.52G>A, XM_006713275.1:c.52G>C, XM_006713275.1:c.52G>A, XM_017006936.2:c.52G>C, XM_017006936.2:c.52G>A, XM_017006936.1:c.52G>C, XM_017006936.1:c.52G>A, NR_027753.2:n.199G>C, NR_027753.2:n.199G>A, NR_027753.1:n.199G>C, NR_027753.1:n.199G>A, XM_017006935.2:c.121G>C, XM_017006935.2:c.121G>A, XM_017006935.1:c.121G>C, XM_017006935.1:c.121G>A, XM_017006938.2:c.52G>C, XM_017006938.2:c.52G>A, XM_017006938.1:c.52G>C, XM_017006938.1:c.52G>A, XM_047448634.1:c.121G>C, XM_047448634.1:c.121G>A, XM_047448635.1:c.121G>C, XM_047448635.1:c.121G>A, XM_047448636.1:c.121G>C, XM_047448636.1:c.121G>A, NP_065758.3:p.Val18Leu, NP_065758.3:p.Val18Met, XP_011532271.1:p.Val41Leu, XP_011532271.1:p.Val41Met, XP_006713337.1:p.Val18Leu, XP_006713337.1:p.Val18Met, XP_011532272.1:p.Val41Leu, XP_011532272.1:p.Val41Met, XP_006713338.1:p.Val18Leu, XP_006713338.1:p.Val18Met, XP_016862425.1:p.Val18Leu, XP_016862425.1:p.Val18Met, XP_016862424.1:p.Val41Leu, XP_016862424.1:p.Val41Met, XP_016862427.1:p.Val18Leu, XP_016862427.1:p.Val18Met, XP_047304590.1:p.Val41Leu, XP_047304590.1:p.Val41Met, XP_047304591.1:p.Val41Leu, XP_047304591.1:p.Val41Met, XP_047304592.1:p.Val41Leu, XP_047304592.1:p.Val41Met

Select item 146323738415.

rs1463237384 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:42693164 (GRCh38)
3:42734656 (GRCh37)
Canonical SPDI:: NC_000003.12:42693163:T:C
Gene:: HHATL (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.42693164T>C, NC_000003.11:g.42734656T>C, NG_033035.1:g.12646T>C, NM_020707.4:c.1303A>G, NM_020707.3:c.1303A>G, XM_011533969.3:c.1372A>G, XM_011533969.2:c.1372A>G, XM_011533969.1:c.1372A>G, XM_006713274.3:c.1303A>G, XM_006713274.2:c.1303A>G, XM_006713274.1:c.1303A>G, XM_011533970.3:c.1177A>G, XM_011533970.2:c.1177A>G, XM_011533970.1:c.1177A>G, XM_006713275.3:c.1108A>G, XM_006713275.2:c.1108A>G, XM_006713275.1:c.1108A>G, XM_017006936.2:c.1303A>G, XM_017006936.1:c.1303A>G, NR_027753.2:n.1450A>G, NR_027753.1:n.1450A>G, XM_017006935.2:c.1372A>G, XM_017006935.1:c.1372A>G, XM_017006938.2:c.1108A>G, XM_017006938.1:c.1108A>G, NP_065758.3:p.Asn435Asp, XP_011532271.1:p.Asn458Asp, XP_006713337.1:p.Asn435Asp, XP_011532272.1:p.Asn393Asp, XP_006713338.1:p.Asn370Asp, XP_016862425.1:p.Asn435Asp, XP_016862424.1:p.Asn458Asp, XP_016862427.1:p.Asn370Asp

Select item 146313525416.

rs1463135254 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:42698821 (GRCh38)
3:42740313 (GRCh37)
Canonical SPDI:: NC_000003.12:42698820:C:A
Gene:: HHATL (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000019/5 (TOPMED)
HGVS:: NC_000003.12:g.42698821C>A, NC_000003.11:g.42740313C>A, NM_020707.4:c.370G>T, NM_020707.3:c.370G>T, XM_011533969.3:c.439G>T, XM_011533969.2:c.439G>T, XM_011533969.1:c.439G>T, XM_006713274.3:c.370G>T, XM_006713274.2:c.370G>T, XM_006713274.1:c.370G>T, XM_017006936.2:c.370G>T, XM_017006936.1:c.370G>T, NR_027753.2:n.517G>T, NR_027753.1:n.517G>T, XM_017006935.2:c.439G>T, XM_017006935.1:c.439G>T, XM_047448634.1:c.439G>T, XM_047448635.1:c.439G>T, XM_047448636.1:c.439G>T, NP_065758.3:p.Gly124Cys, XP_011532271.1:p.Gly147Cys, XP_006713337.1:p.Gly124Cys, XP_016862425.1:p.Gly124Cys, XP_016862424.1:p.Gly147Cys, XP_047304590.1:p.Gly147Cys, XP_047304591.1:p.Gly147Cys, XP_047304592.1:p.Gly147Cys

Select item 145850743017.

rs1458507430 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 3:42699079 (GRCh38)
3:42740571 (GRCh37)
Canonical SPDI:: NC_000003.12:42699078:A:T
Gene:: HHATL (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.42699079A>T, NC_000003.11:g.42740571A>T, NM_020707.4:c.241T>A, NM_020707.3:c.241T>A, XM_011533969.3:c.310T>A, XM_011533969.2:c.310T>A, XM_011533969.1:c.310T>A, XM_006713274.3:c.241T>A, XM_006713274.2:c.241T>A, XM_006713274.1:c.241T>A, XM_011533970.3:c.310T>A, XM_011533970.2:c.310T>A, XM_011533970.1:c.310T>A, XM_006713275.3:c.241T>A, XM_006713275.2:c.241T>A, XM_006713275.1:c.241T>A, XM_017006936.2:c.241T>A, XM_017006936.1:c.241T>A, NR_027753.2:n.388T>A, NR_027753.1:n.388T>A, XM_017006935.2:c.310T>A, XM_017006935.1:c.310T>A, XM_017006938.2:c.241T>A, XM_017006938.1:c.241T>A, XM_047448634.1:c.310T>A, XM_047448635.1:c.310T>A, XM_047448636.1:c.310T>A, NP_065758.3:p.Ser81Thr, XP_011532271.1:p.Ser104Thr, XP_006713337.1:p.Ser81Thr, XP_011532272.1:p.Ser104Thr, XP_006713338.1:p.Ser81Thr, XP_016862425.1:p.Ser81Thr, XP_016862424.1:p.Ser104Thr, XP_016862427.1:p.Ser81Thr, XP_047304590.1:p.Ser104Thr, XP_047304591.1:p.Ser104Thr, XP_047304592.1:p.Ser104Thr

Select item 145774280418.

rs1457742804 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:42697067 (GRCh38)
3:42738559 (GRCh37)
Canonical SPDI:: NC_000003.12:42697066:C:T
Gene:: HHATL (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.42697067C>T, NC_000003.11:g.42738559C>T, NM_020707.4:c.944G>A, NM_020707.3:c.944G>A, XM_011533969.3:c.1013G>A, XM_011533969.2:c.1013G>A, XM_011533969.1:c.1013G>A, XM_006713274.3:c.944G>A, XM_006713274.2:c.944G>A, XM_006713274.1:c.944G>A, XM_011533970.3:c.818G>A, XM_011533970.2:c.818G>A, XM_011533970.1:c.818G>A, XM_006713275.3:c.749G>A, XM_006713275.2:c.749G>A, XM_006713275.1:c.749G>A, XM_017006936.2:c.944G>A, XM_017006936.1:c.944G>A, NR_027753.2:n.1091G>A, NR_027753.1:n.1091G>A, XM_017006935.2:c.1013G>A, XM_017006935.1:c.1013G>A, XM_017006938.2:c.749G>A, XM_017006938.1:c.749G>A, XM_047448634.1:c.1013G>A, NP_065758.3:p.Cys315Tyr, XP_011532271.1:p.Cys338Tyr, XP_006713337.1:p.Cys315Tyr, XP_011532272.1:p.Cys273Tyr, XP_006713338.1:p.Cys250Tyr, XP_016862425.1:p.Cys315Tyr, XP_016862424.1:p.Cys338Tyr, XP_016862427.1:p.Cys250Tyr, XP_047304590.1:p.Cys338Tyr

Select item 145732360719.

rs1457323607 has merged into rs757779654 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAG>-,CAGCAG [Show Flanks]
Chromosome:: 3:42698834 (GRCh38)
3:42740326 (GRCh37)
Canonical SPDI:: NC_000003.12:42698822:AGCAGCAGCAGCAG:AGCAGCAGCAG,NC_000003.12:42698822:AGCAGCAGCAGCAG:AGCAGCAGCAGCAGCAG
Gene:: HHATL (Varview)
Functional Consequence:: non_coding_transcript_variant,inframe_insertion,coding_sequence_variant,inframe_deletion,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGCAGCAGCAG=0.000384/8 (ALFA)
AGC=0.000008/2 (TOPMED)
AGC=0.00005/7 (GnomAD)
-=0.000135/16 (ExAC)
HGVS:: NC_000003.12:g.42698825CAG[3], NC_000003.12:g.42698825CAG[5], NC_000003.11:g.42740317CAG[3], NC_000003.11:g.42740317CAG[5], NM_020707.4:c.357GCT[3], NM_020707.4:c.357GCT[5], NM_020707.3:c.357GCT[3], NM_020707.3:c.357GCT[5], XM_011533969.3:c.426GCT[3], XM_011533969.3:c.426GCT[5], XM_011533969.2:c.426GCT[3], XM_011533969.2:c.426GCT[5], XM_011533969.1:c.426GCT[3], XM_011533969.1:c.426GCT[5], XM_006713274.3:c.357GCT[3], XM_006713274.3:c.357GCT[5], XM_006713274.2:c.357GCT[3], XM_006713274.2:c.357GCT[5], XM_006713274.1:c.357GCT[3], XM_006713274.1:c.357GCT[5], XM_017006936.2:c.357GCT[3], XM_017006936.2:c.357GCT[5], XM_017006936.1:c.357GCT[3], XM_017006936.1:c.357GCT[5], NR_027753.2:n.504GCT[3], NR_027753.2:n.504GCT[5], NR_027753.1:n.504GCT[3], NR_027753.1:n.504GCT[5], XM_017006935.2:c.426GCT[3], XM_017006935.2:c.426GCT[5], XM_017006935.1:c.426GCT[3], XM_017006935.1:c.426GCT[5], XM_047448634.1:c.426GCT[3], XM_047448634.1:c.426GCT[5], XM_047448635.1:c.426GCT[3], XM_047448635.1:c.426GCT[5], XM_047448636.1:c.426GCT[3], XM_047448636.1:c.426GCT[5], NP_065758.3:p.Leu123del, NP_065758.3:p.Leu123dup, XP_011532271.1:p.Leu146del, XP_011532271.1:p.Leu146dup, XP_006713337.1:p.Leu123del, XP_006713337.1:p.Leu123dup, XP_016862425.1:p.Leu123del, XP_016862425.1:p.Leu123dup, XP_016862424.1:p.Leu146del, XP_016862424.1:p.Leu146dup, XP_047304590.1:p.Leu146del, XP_047304590.1:p.Leu146dup, XP_047304591.1:p.Leu146del, XP_047304591.1:p.Leu146dup, XP_047304592.1:p.Leu146del, XP_047304592.1:p.Leu146dup

Select item 145722309120.

rs1457223091 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 3:42700727 (GRCh38)
3:42742219 (GRCh37)
Canonical SPDI:: NC_000003.12:42700726:AA:A
Gene:: HHATL (Varview), HHATL-AS1 (Varview)
Functional Consequence:: frameshift_variant,upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: -=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000003.12:g.42700728del, NC_000003.11:g.42742220del, NM_020707.4:c.100del, NM_020707.3:c.100del, XM_011533969.3:c.169del, XM_011533969.2:c.169del, XM_011533969.1:c.169del, XM_006713274.3:c.100del, XM_006713274.2:c.100del, XM_006713274.1:c.100del, XM_011533970.3:c.169del, XM_011533970.2:c.169del, XM_011533970.1:c.169del, XM_006713275.3:c.100del, XM_006713275.2:c.100del, XM_006713275.1:c.100del, XM_017006936.2:c.100del, XM_017006936.1:c.100del, NR_027753.2:n.247del, NR_027753.1:n.247del, XM_017006935.2:c.169del, XM_017006935.1:c.169del, XM_017006938.2:c.100del, XM_017006938.1:c.100del, XM_047448634.1:c.169del, XM_047448635.1:c.169del, XM_047448636.1:c.169del, NP_065758.3:p.Ser34fs, XP_011532271.1:p.Ser57fs, XP_006713337.1:p.Ser34fs, XP_011532272.1:p.Ser57fs, XP_006713338.1:p.Ser34fs, XP_016862425.1:p.Ser34fs, XP_016862424.1:p.Ser57fs, XP_016862427.1:p.Ser34fs, XP_047304590.1:p.Ser57fs, XP_047304591.1:p.Ser57fs, XP_047304592.1:p.Ser57fs

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