Linked Data
ClinVar Variation Id:
445397
dbSNP Id:
rs147502219
ExAC:
15:72637823 T / C
gnomAD v2:
15-72637823-T-C
gnomAD v3:
15-72345482-T-C
gnomAD v4:
15-72345482-T-C
PubMed:
PMID:19644708
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.72345482T>C , CM000677.2:g.72345482T>C | GRCh38 |
| NC_000015.9:g.72637823T>C , CM000677.1:g.72637823T>C | GRCh37 |
| NC_000015.8:g.70424877T>C | NCBI36 |
| NG_009017.1:g.35698A>G | |
| NG_009017.2:g.35698A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000567027.6:c.*150A>G | ENSP00000457521.2:n.*150A>G | |
| ENST00000682061.1:c.*1836A>G | ENSP00000508316.1:n.*1836A>G | |
| ENST00000682064.1:n.1717A>G | ||
| ENST00000682177.1:c.1533A>G | ENSP00000507409.1:n.1533A>G | |
| ENST00000682235.1:n.1513A>G | ||
| ENST00000682461.1:c.1596A>G | ENSP00000507308.1:n.1596A>G | |
| ENST00000682653.1:n.2494A>G | ||
| ENST00000682657.1:c.*1327A>G | ENSP00000507753.1:n.*1327A>G | |
| ENST00000682721.1:c.*1293A>G | ENSP00000507535.1:n.*1293A>G | |
| ENST00000682843.1:c.*1131A>G | ENSP00000508173.1:n.*1131A>G | |
| ENST00000683003.1:c.*1327A>G | ENSP00000507576.1:n.*1327A>G | |
| ENST00000683133.1:c.1674A>G | ENSP00000508108.1:n.1674A>G | |
| ENST00000683243.1:c.*643A>G | ENSP00000507042.1:n.*643A>G | |
| ENST00000683463.1:c.*979A>G | ENSP00000507986.1:n.*979A>G | |
| ENST00000683548.1:n.1948A>G | ||
| ENST00000683579.1:c.*1388A>G | ENSP00000506867.1:n.*1388A>G | |
| ENST00000683587.1:n.2021A>G | ||
| ENST00000683681.1:c.*168A>G | ENSP00000508110.1:n.*168A>G | |
| ENST00000683735.1:c.*1888A>G | ENSP00000508336.1:n.*1888A>G | |
| ENST00000683853.1:c.*295A>G | ENSP00000506834.1:n.*295A>G | |
| ENST00000683860.1:c.*610A>G | ENSP00000507179.1:n.*610A>G | |
| ENST00000683884.1:c.*817A>G | ENSP00000507004.1:n.*817A>G | |
| ENST00000684041.1:c.*623A>G | ENSP00000508382.1:n.*623A>G | |
| ENST00000684125.1:c.*150A>G | ENSP00000507320.1:n.*150A>G | |
| ENST00000684203.1:n.3939A>G | ||
| ENST00000684231.1:c.*900A>G | ENSP00000507748.1:n.*900A>G | |
| ENST00000684263.1:c.*1114A>G | ENSP00000508369.1:n.*1114A>G | |
| ENST00000684305.1:c.1938A>G | ENSP00000506819.1:n.1938A>G | |
| ENST00000684415.1:c.*1041A>G | ENSP00000507227.1:n.*1041A>G | |
| ENST00000684520.1:c.*749A>G | ENSP00000506826.1:n.*749A>G | |
| ENST00000684602.1:c.*1156A>G | ENSP00000507996.1:n.*1156A>G | |
| ENST00000684667.1:c.1821A>G | ENSP00000507003.1:n.1821A>G | |
| ENST00000268097.10:c.1490A>G MANE Select | ENSP00000268097.6:p.Tyr497Cys | |
| ENST00000268097.9:c.1490A>G | ENSP00000268097.5:p.Tyr497Cys | |
| ENST00000379915.4:c.572A>G | ENSP00000478716.1:p.Tyr191Cys | |
| ENST00000564677.5:n.282A>G | ||
| ENST00000565873.1:n.401A>G | ||
| ENST00000566304.5:c.1523A>G | ENSP00000455114.1:p.Tyr508Cys | |
| ENST00000567027.5:c.1105A>G | ||
| ENST00000567159.5:c.1490A>G | ENSP00000456489.1:p.Tyr497Cys | |
| ENST00000567411.5:c.*1011A>G | ENSP00000455545.1:n.*1011A>G | |
| ENST00000568777.5:n.6710A>G | ||
| ENST00000569116.1:n.197A>G | ||
| NM_000520.4:c.1490A>G | NP_000511.2:p.Tyr497Cys | |
| NM_000520.5:c.1490A>G | NP_000511.2:p.Tyr497Cys | |
| NM_001318825.1:c.1523A>G | NP_001305754.1:p.Tyr508Cys | |
| NR_134869.1:n.1734A>G | ||
| NM_000520.6:c.1490A>G MANE Select | NP_000511.2:p.Tyr497Cys | |
| NM_001318825.2:c.1523A>G | NP_001305754.1:p.Tyr508Cys | |
| NR_134869.2:n.1275A>G | ||
| NR_134869.3:n.1275A>G |