Linked Data
ClinVar Variation Id:
2579335
ClinVar RCV Id:
RCV003327770
dbSNP Id:
rs769096722
ExAC:
1:12062087 G / T
gnomAD v2:
1-12062087-G-T
gnomAD v4:
1-12002030-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.12002030G>T , CM000663.2:g.12002030G>T | GRCh38 |
| NC_000001.10:g.12062087G>T , CM000663.1:g.12062087G>T | GRCh37 |
| NC_000001.9:g.11984674G>T | NCBI36 |
| NG_007945.1:g.26850G>T , LRG_255:g.26850G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000235329.10:c.1087G>T MANE Select | ENSP00000235329.5:p.Val363Phe | |
| ENST00000674548.1:c.1087G>T | ENSP00000502185.1:p.Val363Phe | |
| ENST00000674658.1:c.742G>T | ENSP00000502334.1:p.Val248Phe | |
| ENST00000674817.1:c.1087G>T | ENSP00000502151.1:p.Val363Phe | |
| ENST00000674910.1:c.1087G>T | ENSP00000501716.1:p.Val363Phe | |
| ENST00000675053.1:c.1087G>T | ENSP00000501646.1:p.Val363Phe | |
| ENST00000675113.1:c.1087G>T | ENSP00000502623.1:p.Val363Phe | |
| ENST00000675194.1:n.1512G>T | ||
| ENST00000675231.1:c.1087G>T | ENSP00000502404.1:p.Val363Phe | |
| ENST00000675298.1:c.1087G>T | ENSP00000501839.1:p.Val363Phe | |
| ENST00000675404.1:n.1322G>T | ||
| ENST00000675483.1:n.1215G>T | ||
| ENST00000675512.1:c.*1089G>T | ENSP00000502630.1:n.*1089G>T | |
| ENST00000675528.1:n.578G>T | ||
| ENST00000675817.1:c.1087G>T | ENSP00000502422.1:p.Val363Phe | |
| ENST00000675872.1:n.1447G>T | ||
| ENST00000675919.1:c.1087G>T | ENSP00000501776.1:p.Val363Phe | |
| ENST00000675959.1:n.1593G>T | ||
| ENST00000675987.1:c.1087G>T | ENSP00000502145.1:p.Val363Phe | |
| ENST00000676293.1:c.1087G>T | ENSP00000502362.1:p.Val363Phe | |
| ENST00000676426.1:c.*87G>T | ENSP00000502359.1:n.*87G>T | |
| ENST00000235329.9:c.1087G>T | ENSP00000235329.5:p.Val363Phe | |
| ENST00000444836.5:c.1087G>T | ENSP00000416338.1:p.Val363Phe | |
| NM_001127660.1:c.1087G>T | NP_001121132.1:p.Val363Phe | |
| NM_014874.3:c.1087G>T , LRG_255t1:c.1087G>T | NP_055689.1:p.Val363Phe | |
| XM_005263543.2:c.1087G>T | XP_005263600.1:p.Val363Phe | |
| XM_005263545.2:c.1087G>T | XP_005263602.1:p.Val363Phe | |
| XM_005263547.2:c.1087G>T | XP_005263604.1:p.Val363Phe | |
| XM_005263548.2:c.1087G>T | XP_005263605.1:p.Val363Phe | |
| XM_005263543.3:c.1087G>T | XP_005263600.1:p.Val363Phe | |
| XM_005263545.3:c.1087G>T | XP_005263602.1:p.Val363Phe | |
| XM_005263547.3:c.1087G>T | XP_005263604.1:p.Val363Phe | |
| XM_005263548.3:c.1087G>T | XP_005263605.1:p.Val363Phe | |
| XM_024451299.1:c.1087G>T | XP_024307067.1:p.Val363Phe | |
| NM_014874.4:c.1087G>T MANE Select | NP_055689.1:p.Val363Phe | |
| NM_001127660.2:c.1087G>T | NP_001121132.1:p.Val363Phe |