SNP Links for Protein (Select 1229385649) - SNP

Links from Protein

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Select item 14904754361.

rs1490475436 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:113902999 (GRCh38)
4:114824155 (GRCh37)
Canonical SPDI:: NC_000004.12:113902998:C:T
Gene:: ARSJ (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.113902999C>T, NC_000004.11:g.114824155C>T, NM_024590.4:c.1075G>A, NM_024590.3:c.1075G>A, XM_011532238.4:c.754G>A, XM_011532238.3:c.754G>A, XM_011532238.2:c.754G>A, XM_011532238.1:c.754G>A, XM_017008594.3:c.727G>A, XM_017008594.2:c.727G>A, XM_017008594.1:c.727G>A, XM_017008592.3:c.1075G>A, XM_017008592.2:c.1075G>A, XM_017008592.1:c.1075G>A, NM_001354211.2:c.727G>A, NM_001354211.1:c.727G>A, NM_001354210.2:c.1075G>A, NM_001354210.1:c.1075G>A, XM_024454215.2:c.754G>A, XM_024454215.1:c.754G>A, XM_047416154.1:c.1075G>A, XM_047416155.1:c.727G>A, XM_047416157.1:c.727G>A, NP_078866.3:p.Val359Met, XP_011530540.1:p.Val252Met, XP_016864083.1:p.Val243Met, XP_016864081.1:p.Val359Met, NP_001341140.1:p.Val243Met, NP_001341139.1:p.Val359Met, XP_024309983.1:p.Val252Met, XP_047272110.1:p.Val359Met, XP_047272111.1:p.Val243Met, XP_047272113.1:p.Val243Met

Select item 14862200682.

rs1486220068 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:113902607 (GRCh38)
4:114823763 (GRCh37)
Canonical SPDI:: NC_000004.12:113902606:A:G
Gene:: ARSJ (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.113902607A>G, NC_000004.11:g.114823763A>G, NM_024590.4:c.1467T>C, NM_024590.3:c.1467T>C, XM_011532238.4:c.1146T>C, XM_011532238.3:c.1146T>C, XM_011532238.2:c.1146T>C, XM_011532238.1:c.1146T>C, XM_017008594.3:c.1119T>C, XM_017008594.2:c.1119T>C, XM_017008594.1:c.1119T>C, XM_017008592.3:c.1467T>C, XM_017008592.2:c.1467T>C, XM_017008592.1:c.1467T>C, NM_001354211.2:c.1119T>C, NM_001354211.1:c.1119T>C, NM_001354210.2:c.1467T>C, NM_001354210.1:c.1467T>C, XM_024454215.2:c.1146T>C, XM_024454215.1:c.1146T>C, XM_047416154.1:c.1467T>C, XM_047416155.1:c.1119T>C, XM_047416157.1:c.1119T>C

Select item 14840511433.

rs1484051143 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:113903675 (GRCh38)
4:114824831 (GRCh37)
Canonical SPDI:: NC_000004.12:113903674:C:A
Gene:: ARSJ (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000049/13 (TOPMED)
HGVS:: NC_000004.12:g.113903675C>A, NC_000004.11:g.114824831C>A, NM_024590.4:c.399G>T, NM_024590.3:c.399G>T, XM_011532238.4:c.78G>T, XM_011532238.3:c.78G>T, XM_011532238.2:c.78G>T, XM_011532238.1:c.78G>T, XM_017008594.3:c.51G>T, XM_017008594.2:c.51G>T, XM_017008594.1:c.51G>T, XM_017008592.3:c.399G>T, XM_017008592.2:c.399G>T, XM_017008592.1:c.399G>T, NM_001354211.2:c.51G>T, NM_001354211.1:c.51G>T, NM_001354210.2:c.399G>T, NM_001354210.1:c.399G>T, XM_024454215.2:c.78G>T, XM_024454215.1:c.78G>T, XM_047416154.1:c.399G>T, XM_047416155.1:c.51G>T, XM_047416157.1:c.51G>T, NP_078866.3:p.Lys133Asn, XP_011530540.1:p.Arg26Ser, XP_016864083.1:p.Arg17Ser, XP_016864081.1:p.Lys133Asn, NP_001341140.1:p.Arg17Ser, NP_001341139.1:p.Lys133Asn, XP_024309983.1:p.Arg26Ser, XP_047272110.1:p.Lys133Asn, XP_047272111.1:p.Arg17Ser, XP_047272113.1:p.Arg17Ser

Select item 14823784504.

rs1482378450 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:113902575 (GRCh38)
4:114823731 (GRCh37)
Canonical SPDI:: NC_000004.12:113902574:G:A
Gene:: ARSJ (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_000004.12:g.113902575G>A, NC_000004.11:g.114823731G>A, NM_024590.4:c.1499C>T, NM_024590.3:c.1499C>T, XM_011532238.4:c.1178C>T, XM_011532238.3:c.1178C>T, XM_011532238.2:c.1178C>T, XM_011532238.1:c.1178C>T, XM_017008594.3:c.1151C>T, XM_017008594.2:c.1151C>T, XM_017008594.1:c.1151C>T, XM_017008592.3:c.1499C>T, XM_017008592.2:c.1499C>T, XM_017008592.1:c.1499C>T, NM_001354211.2:c.1151C>T, NM_001354211.1:c.1151C>T, NM_001354210.2:c.1499C>T, NM_001354210.1:c.1499C>T, XM_024454215.2:c.1178C>T, XM_024454215.1:c.1178C>T, XM_047416154.1:c.1499C>T, XM_047416155.1:c.1151C>T, XM_047416157.1:c.1151C>T, NP_078866.3:p.Ala500Val, XP_011530540.1:p.Ala393Val, XP_016864083.1:p.Ala384Val, XP_016864081.1:p.Ala500Val, NP_001341140.1:p.Ala384Val, NP_001341139.1:p.Ala500Val, XP_024309983.1:p.Ala393Val, XP_047272110.1:p.Ala500Val, XP_047272111.1:p.Ala384Val, XP_047272113.1:p.Ala384Val

Select item 14798809495.

rs1479880949 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 4:113902519 (GRCh38)
4:114823675 (GRCh37)
Canonical SPDI:: NC_000004.12:113902518:G:A,NC_000004.12:113902518:G:C
Gene:: ARSJ (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.113902519G>A, NC_000004.12:g.113902519G>C, NC_000004.11:g.114823675G>A, NC_000004.11:g.114823675G>C, NM_024590.4:c.1555C>T, NM_024590.4:c.1555C>G, NM_024590.3:c.1555C>T, NM_024590.3:c.1555C>G, XM_011532238.4:c.1234C>T, XM_011532238.4:c.1234C>G, XM_011532238.3:c.1234C>T, XM_011532238.3:c.1234C>G, XM_011532238.2:c.1234C>T, XM_011532238.2:c.1234C>G, XM_011532238.1:c.1234C>T, XM_011532238.1:c.1234C>G, XM_017008594.3:c.1207C>T, XM_017008594.3:c.1207C>G, XM_017008594.2:c.1207C>T, XM_017008594.2:c.1207C>G, XM_017008594.1:c.1207C>T, XM_017008594.1:c.1207C>G, XM_017008592.3:c.1555C>T, XM_017008592.3:c.1555C>G, XM_017008592.2:c.1555C>T, XM_017008592.2:c.1555C>G, XM_017008592.1:c.1555C>T, XM_017008592.1:c.1555C>G, NM_001354211.2:c.1207C>T, NM_001354211.2:c.1207C>G, NM_001354211.1:c.1207C>T, NM_001354211.1:c.1207C>G, NM_001354210.2:c.1555C>T, NM_001354210.2:c.1555C>G, NM_001354210.1:c.1555C>T, NM_001354210.1:c.1555C>G, XM_024454215.2:c.1234C>T, XM_024454215.2:c.1234C>G, XM_024454215.1:c.1234C>T, XM_024454215.1:c.1234C>G, XM_047416154.1:c.1555C>T, XM_047416154.1:c.1555C>G, XM_047416155.1:c.1207C>T, XM_047416155.1:c.1207C>G, XM_047416157.1:c.1207C>T, XM_047416157.1:c.1207C>G, NP_078866.3:p.Leu519Phe, NP_078866.3:p.Leu519Val, XP_011530540.1:p.Leu412Phe, XP_011530540.1:p.Leu412Val, XP_016864083.1:p.Leu403Phe, XP_016864083.1:p.Leu403Val, XP_016864081.1:p.Leu519Phe, XP_016864081.1:p.Leu519Val, NP_001341140.1:p.Leu403Phe, NP_001341140.1:p.Leu403Val, NP_001341139.1:p.Leu519Phe, NP_001341139.1:p.Leu519Val, XP_024309983.1:p.Leu412Phe, XP_024309983.1:p.Leu412Val, XP_047272110.1:p.Leu519Phe, XP_047272110.1:p.Leu519Val, XP_047272111.1:p.Leu403Phe, XP_047272111.1:p.Leu403Val, XP_047272113.1:p.Leu403Phe, XP_047272113.1:p.Leu403Val

Select item 14797953396.

rs1479795339 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:113978449 (GRCh38)
4:114899605 (GRCh37)
Canonical SPDI:: NC_000004.12:113978448:A:C
Gene:: ARSJ (Varview), LOC107986305 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,intron_variant,5_prime_UTR_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.113978449A>C, NC_000004.11:g.114899605A>C, NM_024590.4:c.386T>G, NM_024590.3:c.386T>G, XM_017008594.3:c.-167T>G, XM_017008594.2:c.-167T>G, XM_017008594.1:c.-167T>G, XM_017008592.3:c.386T>G, XM_017008592.2:c.386T>G, XM_017008592.1:c.386T>G, NM_001354211.2:c.-260T>G, NM_001354211.1:c.-260T>G, NM_001354210.2:c.386T>G, NM_001354210.1:c.386T>G, XM_047416154.1:c.386T>G, NP_078866.3:p.Phe129Cys, XP_016864081.1:p.Phe129Cys, NP_001341139.1:p.Phe129Cys, XP_047272110.1:p.Phe129Cys

Select item 14774609017.

rs1477460901 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:113902901 (GRCh38)
4:114824057 (GRCh37)
Canonical SPDI:: NC_000004.12:113902900:C:T
Gene:: ARSJ (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.113902901C>T, NC_000004.11:g.114824057C>T, NM_024590.4:c.1173G>A, NM_024590.3:c.1173G>A, XM_011532238.4:c.852G>A, XM_011532238.3:c.852G>A, XM_011532238.2:c.852G>A, XM_011532238.1:c.852G>A, XM_017008594.3:c.825G>A, XM_017008594.2:c.825G>A, XM_017008594.1:c.825G>A, XM_017008592.3:c.1173G>A, XM_017008592.2:c.1173G>A, XM_017008592.1:c.1173G>A, NM_001354211.2:c.825G>A, NM_001354211.1:c.825G>A, NM_001354210.2:c.1173G>A, NM_001354210.1:c.1173G>A, XM_024454215.2:c.852G>A, XM_024454215.1:c.852G>A, XM_047416154.1:c.1173G>A, XM_047416155.1:c.825G>A, XM_047416157.1:c.825G>A

Select item 14742256118.

rs1474225611 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:113903612 (GRCh38)
4:114824768 (GRCh37)
Canonical SPDI:: NC_000004.12:113903611:A:G
Gene:: ARSJ (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000004.12:g.113903612A>G, NC_000004.11:g.114824768A>G, NM_024590.4:c.462T>C, NM_024590.3:c.462T>C, XM_011532238.4:c.141T>C, XM_011532238.3:c.141T>C, XM_011532238.2:c.141T>C, XM_011532238.1:c.141T>C, XM_017008594.3:c.114T>C, XM_017008594.2:c.114T>C, XM_017008594.1:c.114T>C, XM_017008592.3:c.462T>C, XM_017008592.2:c.462T>C, XM_017008592.1:c.462T>C, NM_001354211.2:c.114T>C, NM_001354211.1:c.114T>C, NM_001354210.2:c.462T>C, NM_001354210.1:c.462T>C, XM_024454215.2:c.141T>C, XM_024454215.1:c.141T>C, XM_047416154.1:c.462T>C, XM_047416155.1:c.114T>C, XM_047416157.1:c.114T>C

Select item 14659767449.

rs1465976744 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:113903283 (GRCh38)
4:114824439 (GRCh37)
Canonical SPDI:: NC_000004.12:113903282:G:A
Gene:: ARSJ (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.113903283G>A, NC_000004.11:g.114824439G>A, NM_024590.4:c.791C>T, NM_024590.3:c.791C>T, XM_011532238.4:c.470C>T, XM_011532238.3:c.470C>T, XM_011532238.2:c.470C>T, XM_011532238.1:c.470C>T, XM_017008594.3:c.443C>T, XM_017008594.2:c.443C>T, XM_017008594.1:c.443C>T, XM_017008592.3:c.791C>T, XM_017008592.2:c.791C>T, XM_017008592.1:c.791C>T, NM_001354211.2:c.443C>T, NM_001354211.1:c.443C>T, NM_001354210.2:c.791C>T, NM_001354210.1:c.791C>T, XM_024454215.2:c.470C>T, XM_024454215.1:c.470C>T, XM_047416154.1:c.791C>T, XM_047416155.1:c.443C>T, XM_047416157.1:c.443C>T, NP_078866.3:p.Ala264Val, XP_011530540.1:p.Ala157Val, XP_016864083.1:p.Ala148Val, XP_016864081.1:p.Ala264Val, NP_001341140.1:p.Ala148Val, NP_001341139.1:p.Ala264Val, XP_024309983.1:p.Ala157Val, XP_047272110.1:p.Ala264Val, XP_047272111.1:p.Ala148Val, XP_047272113.1:p.Ala148Val

Select item 146322398910.

rs1463223989 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 4:113903132 (GRCh38)
4:114824288 (GRCh37)
Canonical SPDI:: NC_000004.12:113903131:A:C,NC_000004.12:113903131:A:G
Gene:: ARSJ (Varview)
Functional Consequence:: stop_gained,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.113903132A>C, NC_000004.12:g.113903132A>G, NC_000004.11:g.114824288A>C, NC_000004.11:g.114824288A>G, NM_024590.4:c.942T>G, NM_024590.4:c.942T>C, NM_024590.3:c.942T>G, NM_024590.3:c.942T>C, XM_011532238.4:c.621T>G, XM_011532238.4:c.621T>C, XM_011532238.3:c.621T>G, XM_011532238.3:c.621T>C, XM_011532238.2:c.621T>G, XM_011532238.2:c.621T>C, XM_011532238.1:c.621T>G, XM_011532238.1:c.621T>C, XM_017008594.3:c.594T>G, XM_017008594.3:c.594T>C, XM_017008594.2:c.594T>G, XM_017008594.2:c.594T>C, XM_017008594.1:c.594T>G, XM_017008594.1:c.594T>C, XM_017008592.3:c.942T>G, XM_017008592.3:c.942T>C, XM_017008592.2:c.942T>G, XM_017008592.2:c.942T>C, XM_017008592.1:c.942T>G, XM_017008592.1:c.942T>C, NM_001354211.2:c.594T>G, NM_001354211.2:c.594T>C, NM_001354211.1:c.594T>G, NM_001354211.1:c.594T>C, NM_001354210.2:c.942T>G, NM_001354210.2:c.942T>C, NM_001354210.1:c.942T>G, NM_001354210.1:c.942T>C, XM_024454215.2:c.621T>G, XM_024454215.2:c.621T>C, XM_024454215.1:c.621T>G, XM_024454215.1:c.621T>C, XM_047416154.1:c.942T>G, XM_047416154.1:c.942T>C, XM_047416155.1:c.594T>G, XM_047416155.1:c.594T>C, XM_047416157.1:c.594T>G, XM_047416157.1:c.594T>C, NP_078866.3:p.Tyr314Ter, XP_011530540.1:p.Tyr207Ter, XP_016864083.1:p.Tyr198Ter, XP_016864081.1:p.Tyr314Ter, NP_001341140.1:p.Tyr198Ter, NP_001341139.1:p.Tyr314Ter, XP_024309983.1:p.Tyr207Ter, XP_047272110.1:p.Tyr314Ter, XP_047272111.1:p.Tyr198Ter, XP_047272113.1:p.Tyr198Ter

Select item 146234794411.

rs1462347944 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:113978549 (GRCh38)
4:114899705 (GRCh37)
Canonical SPDI:: NC_000004.12:113978548:A:C
Gene:: ARSJ (Varview), LOC107986305 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.113978549A>C, NC_000004.11:g.114899705A>C, NM_024590.4:c.286T>G, NM_024590.3:c.286T>G, XM_017008594.3:c.-267T>G, XM_017008594.2:c.-267T>G, XM_017008594.1:c.-267T>G, XM_017008592.3:c.286T>G, XM_017008592.2:c.286T>G, XM_017008592.1:c.286T>G, NM_001354211.2:c.-360T>G, NM_001354211.1:c.-360T>G, NM_001354210.2:c.286T>G, NM_001354210.1:c.286T>G, XM_047416154.1:c.286T>G, NP_078866.3:p.Ser96Ala, XP_016864081.1:p.Ser96Ala, NP_001341139.1:p.Ser96Ala, XP_047272110.1:p.Ser96Ala

Select item 146014320012.

rs1460143200 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:113978528 (GRCh38)
4:114899684 (GRCh37)
Canonical SPDI:: NC_000004.12:113978527:G:A
Gene:: ARSJ (Varview), LOC107986305 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.113978528G>A, NC_000004.11:g.114899684G>A, NM_024590.4:c.307C>T, NM_024590.3:c.307C>T, XM_017008594.3:c.-246C>T, XM_017008594.2:c.-246C>T, XM_017008594.1:c.-246C>T, XM_017008592.3:c.307C>T, XM_017008592.2:c.307C>T, XM_017008592.1:c.307C>T, NM_001354211.2:c.-339C>T, NM_001354211.1:c.-339C>T, NM_001354210.2:c.307C>T, NM_001354210.1:c.307C>T, XM_047416154.1:c.307C>T, NP_078866.3:p.Leu103Phe, XP_016864081.1:p.Leu103Phe, NP_001341139.1:p.Leu103Phe, XP_047272110.1:p.Leu103Phe

Select item 145654870613.

rs1456548706 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:113903370 (GRCh38)
4:114824526 (GRCh37)
Canonical SPDI:: NC_000004.12:113903369:C:A
Gene:: ARSJ (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000004.12:g.113903370C>A, NC_000004.11:g.114824526C>A, NM_024590.4:c.704G>T, NM_024590.3:c.704G>T, XM_011532238.4:c.383G>T, XM_011532238.3:c.383G>T, XM_011532238.2:c.383G>T, XM_011532238.1:c.383G>T, XM_017008594.3:c.356G>T, XM_017008594.2:c.356G>T, XM_017008594.1:c.356G>T, XM_017008592.3:c.704G>T, XM_017008592.2:c.704G>T, XM_017008592.1:c.704G>T, NM_001354211.2:c.356G>T, NM_001354211.1:c.356G>T, NM_001354210.2:c.704G>T, NM_001354210.1:c.704G>T, XM_024454215.2:c.383G>T, XM_024454215.1:c.383G>T, XM_047416154.1:c.704G>T, XM_047416155.1:c.356G>T, XM_047416157.1:c.356G>T, NP_078866.3:p.Gly235Val, XP_011530540.1:p.Gly128Val, XP_016864083.1:p.Gly119Val, XP_016864081.1:p.Gly235Val, NP_001341140.1:p.Gly119Val, NP_001341139.1:p.Gly235Val, XP_024309983.1:p.Gly128Val, XP_047272110.1:p.Gly235Val, XP_047272111.1:p.Gly119Val, XP_047272113.1:p.Gly119Val

Select item 145580134014.

rs1455801340 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:113903185 (GRCh38)
4:114824341 (GRCh37)
Canonical SPDI:: NC_000004.12:113903184:G:A
Gene:: ARSJ (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.113903185G>A, NC_000004.11:g.114824341G>A, NM_024590.4:c.889C>T, NM_024590.3:c.889C>T, XM_011532238.4:c.568C>T, XM_011532238.3:c.568C>T, XM_011532238.2:c.568C>T, XM_011532238.1:c.568C>T, XM_017008594.3:c.541C>T, XM_017008594.2:c.541C>T, XM_017008594.1:c.541C>T, XM_017008592.3:c.889C>T, XM_017008592.2:c.889C>T, XM_017008592.1:c.889C>T, NM_001354211.2:c.541C>T, NM_001354211.1:c.541C>T, NM_001354210.2:c.889C>T, NM_001354210.1:c.889C>T, XM_024454215.2:c.568C>T, XM_024454215.1:c.568C>T, XM_047416154.1:c.889C>T, XM_047416155.1:c.541C>T, XM_047416157.1:c.541C>T, NP_078866.3:p.Leu297Phe, XP_011530540.1:p.Leu190Phe, XP_016864083.1:p.Leu181Phe, XP_016864081.1:p.Leu297Phe, NP_001341140.1:p.Leu181Phe, NP_001341139.1:p.Leu297Phe, XP_024309983.1:p.Leu190Phe, XP_047272110.1:p.Leu297Phe, XP_047272111.1:p.Leu181Phe, XP_047272113.1:p.Leu181Phe

Select item 145436311215.

rs1454363112 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 4:113903201 (GRCh38)
4:114824357 (GRCh37)
Canonical SPDI:: NC_000004.12:113903200:C:A,NC_000004.12:113903200:C:T
Gene:: ARSJ (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
HGVS:: NC_000004.12:g.113903201C>A, NC_000004.12:g.113903201C>T, NC_000004.11:g.114824357C>A, NC_000004.11:g.114824357C>T, NM_024590.4:c.873G>T, NM_024590.4:c.873G>A, NM_024590.3:c.873G>T, NM_024590.3:c.873G>A, XM_011532238.4:c.552G>T, XM_011532238.4:c.552G>A, XM_011532238.3:c.552G>T, XM_011532238.3:c.552G>A, XM_011532238.2:c.552G>T, XM_011532238.2:c.552G>A, XM_011532238.1:c.552G>T, XM_011532238.1:c.552G>A, XM_017008594.3:c.525G>T, XM_017008594.3:c.525G>A, XM_017008594.2:c.525G>T, XM_017008594.2:c.525G>A, XM_017008594.1:c.525G>T, XM_017008594.1:c.525G>A, XM_017008592.3:c.873G>T, XM_017008592.3:c.873G>A, XM_017008592.2:c.873G>T, XM_017008592.2:c.873G>A, XM_017008592.1:c.873G>T, XM_017008592.1:c.873G>A, NM_001354211.2:c.525G>T, NM_001354211.2:c.525G>A, NM_001354211.1:c.525G>T, NM_001354211.1:c.525G>A, NM_001354210.2:c.873G>T, NM_001354210.2:c.873G>A, NM_001354210.1:c.873G>T, NM_001354210.1:c.873G>A, XM_024454215.2:c.552G>T, XM_024454215.2:c.552G>A, XM_024454215.1:c.552G>T, XM_024454215.1:c.552G>A, XM_047416154.1:c.873G>T, XM_047416154.1:c.873G>A, XM_047416155.1:c.525G>T, XM_047416155.1:c.525G>A, XM_047416157.1:c.525G>T, XM_047416157.1:c.525G>A, NP_078866.3:p.Arg291Ser, XP_011530540.1:p.Arg184Ser, XP_016864083.1:p.Arg175Ser, XP_016864081.1:p.Arg291Ser, NP_001341140.1:p.Arg175Ser, NP_001341139.1:p.Arg291Ser, XP_024309983.1:p.Arg184Ser, XP_047272110.1:p.Arg291Ser, XP_047272111.1:p.Arg175Ser, XP_047272113.1:p.Arg175Ser

Select item 145332724916.

rs1453327249 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:113903528 (GRCh38)
4:114824684 (GRCh37)
Canonical SPDI:: NC_000004.12:113903527:G:A
Gene:: ARSJ (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.113903528G>A, NC_000004.11:g.114824684G>A, NM_024590.4:c.546C>T, NM_024590.3:c.546C>T, XM_011532238.4:c.225C>T, XM_011532238.3:c.225C>T, XM_011532238.2:c.225C>T, XM_011532238.1:c.225C>T, XM_017008594.3:c.198C>T, XM_017008594.2:c.198C>T, XM_017008594.1:c.198C>T, XM_017008592.3:c.546C>T, XM_017008592.2:c.546C>T, XM_017008592.1:c.546C>T, NM_001354211.2:c.198C>T, NM_001354211.1:c.198C>T, NM_001354210.2:c.546C>T, NM_001354210.1:c.546C>T, XM_024454215.2:c.225C>T, XM_024454215.1:c.225C>T, XM_047416154.1:c.546C>T, XM_047416155.1:c.198C>T, XM_047416157.1:c.198C>T

Select item 145293623117.

rs1452936231 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 4:113902642 (GRCh38)
4:114823798 (GRCh37)
Canonical SPDI:: NC_000004.12:113902641:T:G
Gene:: ARSJ (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000012/3 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.113902642T>G, NC_000004.11:g.114823798T>G, NM_024590.4:c.1432A>C, NM_024590.3:c.1432A>C, XM_011532238.4:c.1111A>C, XM_011532238.3:c.1111A>C, XM_011532238.2:c.1111A>C, XM_011532238.1:c.1111A>C, XM_017008594.3:c.1084A>C, XM_017008594.2:c.1084A>C, XM_017008594.1:c.1084A>C, XM_017008592.3:c.1432A>C, XM_017008592.2:c.1432A>C, XM_017008592.1:c.1432A>C, NM_001354211.2:c.1084A>C, NM_001354211.1:c.1084A>C, NM_001354210.2:c.1432A>C, NM_001354210.1:c.1432A>C, XM_024454215.2:c.1111A>C, XM_024454215.1:c.1111A>C, XM_047416154.1:c.1432A>C, XM_047416155.1:c.1084A>C, XM_047416157.1:c.1084A>C, NP_078866.3:p.Asn478His, XP_011530540.1:p.Asn371His, XP_016864083.1:p.Asn362His, XP_016864081.1:p.Asn478His, NP_001341140.1:p.Asn362His, NP_001341139.1:p.Asn478His, XP_024309983.1:p.Asn371His, XP_047272110.1:p.Asn478His, XP_047272111.1:p.Asn362His, XP_047272113.1:p.Asn362His

Select item 145063833118.

rs1450638331 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 4:113978518 (GRCh38)
4:114899674 (GRCh37)
Canonical SPDI:: NC_000004.12:113978517:A:C,NC_000004.12:113978517:A:T
Gene:: ARSJ (Varview), LOC107986305 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.113978518A>C, NC_000004.12:g.113978518A>T, NC_000004.11:g.114899674A>C, NC_000004.11:g.114899674A>T, NM_024590.4:c.317T>G, NM_024590.4:c.317T>A, NM_024590.3:c.317T>G, NM_024590.3:c.317T>A, XM_017008594.3:c.-236T>G, XM_017008594.3:c.-236T>A, XM_017008594.2:c.-236T>G, XM_017008594.2:c.-236T>A, XM_017008594.1:c.-236T>G, XM_017008594.1:c.-236T>A, XM_017008592.3:c.317T>G, XM_017008592.3:c.317T>A, XM_017008592.2:c.317T>G, XM_017008592.2:c.317T>A, XM_017008592.1:c.317T>G, XM_017008592.1:c.317T>A, NM_001354211.2:c.-329T>G, NM_001354211.2:c.-329T>A, NM_001354211.1:c.-329T>G, NM_001354211.1:c.-329T>A, NM_001354210.2:c.317T>G, NM_001354210.2:c.317T>A, NM_001354210.1:c.317T>G, NM_001354210.1:c.317T>A, XM_047416154.1:c.317T>G, XM_047416154.1:c.317T>A, NP_078866.3:p.Leu106Arg, NP_078866.3:p.Leu106His, XP_016864081.1:p.Leu106Arg, XP_016864081.1:p.Leu106His, NP_001341139.1:p.Leu106Arg, NP_001341139.1:p.Leu106His, XP_047272110.1:p.Leu106Arg, XP_047272110.1:p.Leu106His

Select item 145050282619.

rs1450502826 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:113903010 (GRCh38)
4:114824166 (GRCh37)
Canonical SPDI:: NC_000004.12:113903009:G:C
Gene:: ARSJ (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.113903010G>C, NC_000004.11:g.114824166G>C, NM_024590.4:c.1064C>G, NM_024590.3:c.1064C>G, XM_011532238.4:c.743C>G, XM_011532238.3:c.743C>G, XM_011532238.2:c.743C>G, XM_011532238.1:c.743C>G, XM_017008594.3:c.716C>G, XM_017008594.2:c.716C>G, XM_017008594.1:c.716C>G, XM_017008592.3:c.1064C>G, XM_017008592.2:c.1064C>G, XM_017008592.1:c.1064C>G, NM_001354211.2:c.716C>G, NM_001354211.1:c.716C>G, NM_001354210.2:c.1064C>G, NM_001354210.1:c.1064C>G, XM_024454215.2:c.743C>G, XM_024454215.1:c.743C>G, XM_047416154.1:c.1064C>G, XM_047416155.1:c.716C>G, XM_047416157.1:c.716C>G, NP_078866.3:p.Ala355Gly, XP_011530540.1:p.Ala248Gly, XP_016864083.1:p.Ala239Gly, XP_016864081.1:p.Ala355Gly, NP_001341140.1:p.Ala239Gly, NP_001341139.1:p.Ala355Gly, XP_024309983.1:p.Ala248Gly, XP_047272110.1:p.Ala355Gly, XP_047272111.1:p.Ala239Gly, XP_047272113.1:p.Ala239Gly

Select item 144861815720.

rs1448618157 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:113903593 (GRCh38)
4:114824749 (GRCh37)
Canonical SPDI:: NC_000004.12:113903592:G:A
Gene:: ARSJ (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.00006/1 (TOMMO)
HGVS:: NC_000004.12:g.113903593G>A, NC_000004.11:g.114824749G>A, NM_024590.4:c.481C>T, NM_024590.3:c.481C>T, XM_011532238.4:c.160C>T, XM_011532238.3:c.160C>T, XM_011532238.2:c.160C>T, XM_011532238.1:c.160C>T, XM_017008594.3:c.133C>T, XM_017008594.2:c.133C>T, XM_017008594.1:c.133C>T, XM_017008592.3:c.481C>T, XM_017008592.2:c.481C>T, XM_017008592.1:c.481C>T, NM_001354211.2:c.133C>T, NM_001354211.1:c.133C>T, NM_001354210.2:c.481C>T, NM_001354210.1:c.481C>T, XM_024454215.2:c.160C>T, XM_024454215.1:c.160C>T, XM_047416154.1:c.481C>T, XM_047416155.1:c.133C>T, XM_047416157.1:c.133C>T, NP_078866.3:p.Pro161Ser, XP_011530540.1:p.Pro54Ser, XP_016864083.1:p.Pro45Ser, XP_016864081.1:p.Pro161Ser, NP_001341140.1:p.Pro45Ser, NP_001341139.1:p.Pro161Ser, XP_024309983.1:p.Pro54Ser, XP_047272110.1:p.Pro161Ser, XP_047272111.1:p.Pro45Ser, XP_047272113.1:p.Pro45Ser

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