SNP Links for Protein (Select 144953901) - SNP

Links from Protein

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Select item 14889777591.

rs1488977759 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 2:3671164 (GRCh38)
2:3718754 (GRCh37)
Canonical SPDI:: NC_000002.12:3671163:A:C,NC_000002.12:3671163:A:G
Gene:: ALLC (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000002.12:g.3671164A>C, NC_000002.12:g.3671164A>G, NC_000002.11:g.3718754A>C, NC_000002.11:g.3718754A>G, NM_018436.4:c.7A>C, NM_018436.4:c.7A>G, NM_018436.3:c.7A>C, NM_018436.3:c.7A>G, XM_011510369.3:c.-247A>C, XM_011510369.3:c.-247A>G, XM_017004495.2:c.211A>C, XM_017004495.2:c.211A>G, XM_017004495.1:c.211A>C, XM_017004495.1:c.211A>G, NP_060906.3:p.Met3Leu, NP_060906.3:p.Met3Val, XP_016859984.1:p.Met71Leu, XP_016859984.1:p.Met71Val

Select item 14878313602.

rs1487831360 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:3679891 (GRCh38)
2:3727481 (GRCh37)
Canonical SPDI:: NC_000002.12:3679890:G:C
Gene:: ALLC (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,missense_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_000002.12:g.3679891G>C, NC_000002.11:g.3727481G>C, NM_018436.4:c.195G>C, NM_018436.3:c.195G>C, XM_017004496.3:c.60G>C, XM_017004496.2:c.60G>C, XM_017004496.1:c.60G>C, XM_011510369.3:c.60G>C, XM_011510369.2:c.60G>C, XM_011510369.1:c.60G>C, XM_017004495.2:c.399G>C, XM_017004495.1:c.399G>C, NP_060906.3:p.Arg65Ser, XP_016859985.1:p.Arg20Ser, XP_011508671.1:p.Arg20Ser, XP_016859984.1:p.Arg133Ser

Select item 14874496213.

rs1487449621 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:3678508 (GRCh38)
2:3726098 (GRCh37)
Canonical SPDI:: NC_000002.12:3678507:T:A
Gene:: ALLC (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.3678508T>A, NC_000002.11:g.3726098T>A, NM_018436.4:c.125T>A, NM_018436.3:c.125T>A, XM_017004496.3:c.-11T>A, XM_017004496.2:c.-11T>A, XM_017004496.1:c.-11T>A, XM_011510369.3:c.-11T>A, XM_011510369.2:c.-11T>A, XM_011510369.1:c.-11T>A, XM_017004495.2:c.329T>A, XM_017004495.1:c.329T>A, NP_060906.3:p.Phe42Tyr, XP_016859984.1:p.Phe110Tyr

Select item 14843762324.

rs1484376232 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:3674121 (GRCh38)
2:3721711 (GRCh37)
Canonical SPDI:: NC_000002.12:3674120:T:C
Gene:: ALLC (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000006/1 (GnomAD_exomes)
C=0.000014/2 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.3674121T>C, NC_000002.11:g.3721711T>C, NM_018436.4:c.80T>C, NM_018436.3:c.80T>C, XM_011510369.3:c.-56T>C, XM_011510369.2:c.-56T>C, XM_011510369.1:c.-56T>C, XM_017004495.2:c.284T>C, XM_017004495.1:c.284T>C, NP_060906.3:p.Ile27Thr, XP_016859984.1:p.Ile95Thr

Select item 14822392645.

rs1482239264 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:3682944 (GRCh38)
2:3730534 (GRCh37)
Canonical SPDI:: NC_000002.12:3682943:A:G
Gene:: ALLC (Varview)
Functional Consequence:: synonymous_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.3682944A>G, NC_000002.11:g.3730534A>G, NM_018436.4:c.381A>G, NM_018436.3:c.381A>G, XM_017004496.3:c.246A>G, XM_017004496.2:c.246A>G, XM_017004496.1:c.246A>G, XM_011510369.3:c.246A>G, XM_011510369.2:c.246A>G, XM_011510369.1:c.246A>G, XM_017004495.2:c.585A>G, XM_017004495.1:c.585A>G, XM_017004497.1:c.-31A>G

Select item 14808481616.

rs1480848161 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:3702373 (GRCh38)
2:3749963 (GRCh37)
Canonical SPDI:: NC_000002.12:3702372:A:G
Gene:: ALLC (Varview), DCDC2C (Varview), LOC105373393 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant,500B_downstream_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.3702373A>G, NC_000002.11:g.3749963A>G, NM_018436.4:c.986A>G, NM_018436.3:c.986A>G, XM_017004496.3:c.851A>G, XM_017004496.2:c.851A>G, XM_017004496.1:c.851A>G, XM_011510369.3:c.851A>G, XM_011510369.2:c.851A>G, XM_011510369.1:c.851A>G, XM_017004495.2:c.1190A>G, XM_017004495.1:c.1190A>G, NM_199232.1:c.299A>G, XM_017004497.1:c.575A>G, XM_017004498.1:c.521A>G, NP_060906.3:p.Asn329Ser, XP_016859985.1:p.Asn284Ser, XP_011508671.1:p.Asn284Ser, XP_016859984.1:p.Asn397Ser, XP_016859986.1:p.Asn192Ser, XP_016859987.1:p.Asn174Ser

Select item 14799328177.

rs1479932817 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 2:3702452 (GRCh38)
2:3750042 (GRCh37)
Canonical SPDI:: NC_000002.12:3702451:C:A,NC_000002.12:3702451:C:G,NC_000002.12:3702451:C:T
Gene:: ALLC (Varview), DCDC2C (Varview), LOC105373393 (Varview)
Functional Consequence:: upstream_transcript_variant,synonymous_variant,coding_sequence_variant,downstream_transcript_variant,500B_downstream_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000009/1 (ExAC)
HGVS:: NC_000002.12:g.3702452C>A, NC_000002.12:g.3702452C>G, NC_000002.12:g.3702452C>T, NC_000002.11:g.3750042C>A, NC_000002.11:g.3750042C>G, NC_000002.11:g.3750042C>T, NM_018436.4:c.1065C>A, NM_018436.4:c.1065C>G, NM_018436.4:c.1065C>T, NM_018436.3:c.1065C>A, NM_018436.3:c.1065C>G, NM_018436.3:c.1065C>T, XM_017004496.3:c.930C>A, XM_017004496.3:c.930C>G, XM_017004496.3:c.930C>T, XM_017004496.2:c.930C>A, XM_017004496.2:c.930C>G, XM_017004496.2:c.930C>T, XM_017004496.1:c.930C>A, XM_017004496.1:c.930C>G, XM_017004496.1:c.930C>T, XM_011510369.3:c.930C>A, XM_011510369.3:c.930C>G, XM_011510369.3:c.930C>T, XM_011510369.2:c.930C>A, XM_011510369.2:c.930C>G, XM_011510369.2:c.930C>T, XM_011510369.1:c.930C>A, XM_011510369.1:c.930C>G, XM_011510369.1:c.930C>T, XM_017004495.2:c.1269C>A, XM_017004495.2:c.1269C>G, XM_017004495.2:c.1269C>T, XM_017004495.1:c.1269C>A, XM_017004495.1:c.1269C>G, XM_017004495.1:c.1269C>T, NM_199232.1:c.378C>A, NM_199232.1:c.378C>G, NM_199232.1:c.378C>T, XM_017004497.1:c.654C>A, XM_017004497.1:c.654C>G, XM_017004497.1:c.654C>T, XM_017004498.1:c.600C>A, XM_017004498.1:c.600C>G, XM_017004498.1:c.600C>T, NP_060906.3:p.Asp355Glu, NP_060906.3:p.Asp355Glu, XP_016859985.1:p.Asp310Glu, XP_016859985.1:p.Asp310Glu, XP_011508671.1:p.Asp310Glu, XP_011508671.1:p.Asp310Glu, XP_016859984.1:p.Asp423Glu, XP_016859984.1:p.Asp423Glu, XP_016859986.1:p.Asp218Glu, XP_016859986.1:p.Asp218Glu, XP_016859987.1:p.Asp200Glu, XP_016859987.1:p.Asp200Glu

Select item 14733697258.

rs1473369725 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:3678520 (GRCh38)
2:3726110 (GRCh37)
Canonical SPDI:: NC_000002.12:3678519:T:C
Gene:: ALLC (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,initiator_codon_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.3678520T>C, NC_000002.11:g.3726110T>C, NM_018436.4:c.137T>C, NM_018436.3:c.137T>C, XM_017004496.3:c.2T>C, XM_017004496.2:c.2T>C, XM_017004496.1:c.2T>C, XM_011510369.3:c.2T>C, XM_011510369.2:c.2T>C, XM_011510369.1:c.2T>C, XM_017004495.2:c.341T>C, XM_017004495.1:c.341T>C, NP_060906.3:p.Met46Thr, XP_016859985.1:p.Met1Thr, XP_011508671.1:p.Met1Thr, XP_016859984.1:p.Met114Thr

Select item 14694320179.

rs1469432017 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:3679959 (GRCh38)
2:3727549 (GRCh37)
Canonical SPDI:: NC_000002.12:3679958:C:T
Gene:: ALLC (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.3679959C>T, NC_000002.11:g.3727549C>T, NM_018436.4:c.263C>T, NM_018436.3:c.263C>T, XM_017004496.3:c.128C>T, XM_017004496.2:c.128C>T, XM_017004496.1:c.128C>T, XM_011510369.3:c.128C>T, XM_011510369.2:c.128C>T, XM_011510369.1:c.128C>T, XM_017004495.2:c.467C>T, XM_017004495.1:c.467C>T, NP_060906.3:p.Pro88Leu, XP_016859985.1:p.Pro43Leu, XP_011508671.1:p.Pro43Leu, XP_016859984.1:p.Pro156Leu

Select item 146194508010.

rs1461945080 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 2:3702422 (GRCh38)
2:3750012 (GRCh37)
Canonical SPDI:: NC_000002.12:3702421:C:
Gene:: ALLC (Varview), DCDC2C (Varview), LOC105373393 (Varview)
Functional Consequence:: upstream_transcript_variant,frameshift_variant,500B_downstream_variant,2KB_upstream_variant,coding_sequence_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.000071/1 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.3702422del, NC_000002.11:g.3750012del, NM_018436.4:c.1035del, NM_018436.3:c.1035del, XM_017004496.3:c.900del, XM_017004496.2:c.900del, XM_017004496.1:c.900del, XM_011510369.3:c.900del, XM_011510369.2:c.900del, XM_011510369.1:c.900del, XM_017004495.2:c.1239del, XM_017004495.1:c.1239del, NM_199232.1:c.348del, XM_017004497.1:c.624del, XM_017004498.1:c.570del, NP_060906.3:p.Thr346fs, XP_016859985.1:p.Thr301fs, XP_011508671.1:p.Thr301fs, XP_016859984.1:p.Thr414fs, XP_016859986.1:p.Thr209fs, XP_016859987.1:p.Thr191fs

Select item 145843964911.

rs1458439649 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 2:3678476 (GRCh38)
2:3726066 (GRCh37)
Canonical SPDI:: NC_000002.12:3678475:CCC:CC
Gene:: ALLC (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000008/2 (GnomAD_exomes)
-=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.3678478del, NC_000002.11:g.3726068del, NM_018436.4:c.95del, NM_018436.3:c.95del, XM_017004496.3:c.-41del, XM_017004496.2:c.-41del, XM_017004496.1:c.-41del, XM_011510369.3:c.-41del, XM_011510369.2:c.-41del, XM_011510369.1:c.-41del, XM_017004495.2:c.299del, XM_017004495.1:c.299del, NP_060906.3:p.Pro32fs, XP_016859984.1:p.Pro100fs

Select item 145731151412.

rs1457311514 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:3695723 (GRCh38)
2:3743313 (GRCh37)
Canonical SPDI:: NC_000002.12:3695722:G:T
Gene:: ALLC (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.3695723G>T, NC_000002.11:g.3743313G>T, NM_018436.4:c.518G>T, NM_018436.3:c.518G>T, XM_017004496.3:c.383G>T, XM_017004496.2:c.383G>T, XM_017004496.1:c.383G>T, XM_011510369.3:c.383G>T, XM_011510369.2:c.383G>T, XM_011510369.1:c.383G>T, XM_017004495.2:c.722G>T, XM_017004495.1:c.722G>T, NM_199232.1:c.-170G>T, XM_017004497.1:c.107G>T, XM_017004498.1:c.53G>T, NP_060906.3:p.Gly173Val, XP_016859985.1:p.Gly128Val, XP_011508671.1:p.Gly128Val, XP_016859984.1:p.Gly241Val, XP_016859986.1:p.Gly36Val, XP_016859987.1:p.Gly18Val

Select item 145497668213.

rs1454976682 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:3681713 (GRCh38)
2:3729303 (GRCh37)
Canonical SPDI:: NC_000002.12:3681712:G:T
Gene:: ALLC (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.3681713G>T, NC_000002.11:g.3729303G>T, NM_018436.4:c.378G>T, NM_018436.3:c.378G>T, XM_017004496.3:c.243G>T, XM_017004496.2:c.243G>T, XM_017004496.1:c.243G>T, XM_011510369.3:c.243G>T, XM_011510369.2:c.243G>T, XM_011510369.1:c.243G>T, XM_017004495.2:c.582G>T, XM_017004495.1:c.582G>T, XM_017004497.1:c.-34G>T, NP_060906.3:p.Glu126Asp, XP_016859985.1:p.Glu81Asp, XP_011508671.1:p.Glu81Asp, XP_016859984.1:p.Glu194Asp

Select item 145186051814.

rs1451860518 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 2:3679893 (GRCh38)
2:3727484 (GRCh37)
Canonical SPDI:: NC_000002.12:3679893:GGGG:GGGGG
Gene:: ALLC (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGG=0./0 (ALFA)
G=0.000008/2 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.3679897dup, NC_000002.11:g.3727487dup, NM_018436.4:c.201dup, NM_018436.3:c.201dup, XM_017004496.3:c.66dup, XM_017004496.2:c.66dup, XM_017004496.1:c.66dup, XM_011510369.3:c.66dup, XM_011510369.2:c.66dup, XM_011510369.1:c.66dup, XM_017004495.2:c.405dup, XM_017004495.1:c.405dup, NP_060906.3:p.Ile68fs, XP_016859985.1:p.Ile23fs, XP_011508671.1:p.Ile23fs, XP_016859984.1:p.Ile136fs

Select item 144994407615.

rs1449944076 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:3681690 (GRCh38)
2:3729280 (GRCh37)
Canonical SPDI:: NC_000002.12:3681689:G:A
Gene:: ALLC (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000015/4 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.3681690G>A, NC_000002.11:g.3729280G>A, NM_018436.4:c.355G>A, NM_018436.3:c.355G>A, XM_017004496.3:c.220G>A, XM_017004496.2:c.220G>A, XM_017004496.1:c.220G>A, XM_011510369.3:c.220G>A, XM_011510369.2:c.220G>A, XM_011510369.1:c.220G>A, XM_017004495.2:c.559G>A, XM_017004495.1:c.559G>A, XM_017004497.1:c.-57G>A, NP_060906.3:p.Glu119Lys, XP_016859985.1:p.Glu74Lys, XP_011508671.1:p.Glu74Lys, XP_016859984.1:p.Glu187Lys

Select item 144620981716.

rs1446209817 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:3696310 (GRCh38)
2:3743900 (GRCh37)
Canonical SPDI:: NC_000002.12:3696309:G:A
Gene:: ALLC (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.3696310G>A, NC_000002.11:g.3743900G>A, NM_018436.4:c.703G>A, NM_018436.3:c.703G>A, XM_017004496.3:c.568G>A, XM_017004496.2:c.568G>A, XM_017004496.1:c.568G>A, XM_011510369.3:c.568G>A, XM_011510369.2:c.568G>A, XM_011510369.1:c.568G>A, XM_017004495.2:c.907G>A, XM_017004495.1:c.907G>A, NM_199232.1:c.16G>A, XM_017004497.1:c.292G>A, XM_017004498.1:c.238G>A, NP_060906.3:p.Glu235Lys, XP_016859985.1:p.Glu190Lys, XP_011508671.1:p.Glu190Lys, XP_016859984.1:p.Glu303Lys, XP_016859986.1:p.Glu98Lys, XP_016859987.1:p.Glu80Lys

Select item 144600050017.

rs1446000500 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:3702526 (GRCh38)
2:3750116 (GRCh37)
Canonical SPDI:: NC_000002.12:3702525:T:C
Gene:: ALLC (Varview), DCDC2C (Varview), LOC105373393 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,coding_sequence_variant,missense_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.3702526T>C, NC_000002.11:g.3750116T>C, NM_018436.4:c.1139T>C, NM_018436.3:c.1139T>C, XM_017004496.3:c.1004T>C, XM_017004496.2:c.1004T>C, XM_017004496.1:c.1004T>C, XM_011510369.3:c.1004T>C, XM_011510369.2:c.1004T>C, XM_011510369.1:c.1004T>C, XM_017004495.2:c.1343T>C, XM_017004495.1:c.1343T>C, NM_199232.1:c.452T>C, XM_017004497.1:c.728T>C, XM_017004498.1:c.674T>C, NP_060906.3:p.Met380Thr, XP_016859985.1:p.Met335Thr, XP_011508671.1:p.Met335Thr, XP_016859984.1:p.Met448Thr, XP_016859986.1:p.Met243Thr, XP_016859987.1:p.Met225Thr

Select item 144418684218.

rs1444186842 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 2:3701579 (GRCh38)
2:3749169 (GRCh37)
Canonical SPDI:: NC_000002.12:3701578:C:A,NC_000002.12:3701578:C:G
Gene:: ALLC (Varview), DCDC2C (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.3701579C>A, NC_000002.12:g.3701579C>G, NC_000002.11:g.3749169C>A, NC_000002.11:g.3749169C>G, NM_018436.4:c.918C>A, NM_018436.4:c.918C>G, NM_018436.3:c.918C>A, NM_018436.3:c.918C>G, XM_017004496.3:c.783C>A, XM_017004496.3:c.783C>G, XM_017004496.2:c.783C>A, XM_017004496.2:c.783C>G, XM_017004496.1:c.783C>A, XM_017004496.1:c.783C>G, XM_011510369.3:c.783C>A, XM_011510369.3:c.783C>G, XM_011510369.2:c.783C>A, XM_011510369.2:c.783C>G, XM_011510369.1:c.783C>A, XM_011510369.1:c.783C>G, XM_017004495.2:c.1122C>A, XM_017004495.2:c.1122C>G, XM_017004495.1:c.1122C>A, XM_017004495.1:c.1122C>G, NM_199232.1:c.231C>A, NM_199232.1:c.231C>G, XM_017004497.1:c.507C>A, XM_017004497.1:c.507C>G, XM_017004498.1:c.453C>A, XM_017004498.1:c.453C>G, NP_060906.3:p.Ile306Met, XP_016859985.1:p.Ile261Met, XP_011508671.1:p.Ile261Met, XP_016859984.1:p.Ile374Met, XP_016859986.1:p.Ile169Met, XP_016859987.1:p.Ile151Met

Select item 144218783619.

rs1442187836 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:3695778 (GRCh38)
2:3743368 (GRCh37)
Canonical SPDI:: NC_000002.12:3695777:C:A
Gene:: ALLC (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.3695778C>A, NC_000002.11:g.3743368C>A, NM_018436.4:c.573C>A, NM_018436.3:c.573C>A, XM_017004496.3:c.438C>A, XM_017004496.2:c.438C>A, XM_017004496.1:c.438C>A, XM_011510369.3:c.438C>A, XM_011510369.2:c.438C>A, XM_011510369.1:c.438C>A, XM_017004495.2:c.777C>A, XM_017004495.1:c.777C>A, NM_199232.1:c.-115C>A, XM_017004497.1:c.162C>A, XM_017004498.1:c.108C>A, NP_060906.3:p.Asp191Glu, XP_016859985.1:p.Asp146Glu, XP_011508671.1:p.Asp146Glu, XP_016859984.1:p.Asp259Glu, XP_016859986.1:p.Asp54Glu, XP_016859987.1:p.Asp36Glu

Select item 143767014220.

rs1437670142 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 2:3702450 (GRCh38)
2:3750040 (GRCh37)
Canonical SPDI:: NC_000002.12:3702449:GA:
Gene:: ALLC (Varview), DCDC2C (Varview), LOC105373393 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,frameshift_variant,500B_downstream_variant,upstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.3702450_3702451del, NC_000002.11:g.3750040_3750041del, NM_018436.4:c.1063_1064del, NM_018436.3:c.1063_1064del, XM_017004496.3:c.928_929del, XM_017004496.2:c.928_929del, XM_017004496.1:c.928_929del, XM_011510369.3:c.928_929del, XM_011510369.2:c.928_929del, XM_011510369.1:c.928_929del, XM_017004495.2:c.1267_1268del, XM_017004495.1:c.1267_1268del, NM_199232.1:c.376_377del, XM_017004497.1:c.652_653del, XM_017004498.1:c.598_599del, NP_060906.3:p.Asp355fs, XP_016859985.1:p.Asp310fs, XP_011508671.1:p.Asp310fs, XP_016859984.1:p.Asp423fs, XP_016859986.1:p.Asp218fs, XP_016859987.1:p.Asp200fs

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