Linked Data
ClinVar Variation Id:
3941
dbSNP Id:
rs121907981
ExAC:
15:72637891 C / G
gnomAD v2:
15-72637891-C-G
gnomAD v3:
15-72345550-C-G
gnomAD v4:
15-72345550-C-G
PubMed:
PMID:9603435
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.72345550C>G , CM000677.2:g.72345550C>G | GRCh38 |
| NC_000015.9:g.72637891C>G , CM000677.1:g.72637891C>G | GRCh37 |
| NC_000015.8:g.70424945C>G | NCBI36 |
| NG_009017.1:g.35630G>C | |
| NG_009017.2:g.35630G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000567027.6:c.*82G>C | ENSP00000457521.2:n.*82G>C | |
| ENST00000682061.1:c.*1768G>C | ENSP00000508316.1:n.*1768G>C | |
| ENST00000682064.1:n.1649G>C | ||
| ENST00000682177.1:c.1465G>C | ENSP00000507409.1:n.1465G>C | |
| ENST00000682235.1:n.1445G>C | ||
| ENST00000682461.1:c.1528G>C | ENSP00000507308.1:n.1528G>C | |
| ENST00000682653.1:n.2426G>C | ||
| ENST00000682657.1:c.*1259G>C | ENSP00000507753.1:n.*1259G>C | |
| ENST00000682721.1:c.*1225G>C | ENSP00000507535.1:n.*1225G>C | |
| ENST00000682843.1:c.*1063G>C | ENSP00000508173.1:n.*1063G>C | |
| ENST00000683003.1:c.*1259G>C | ENSP00000507576.1:n.*1259G>C | |
| ENST00000683133.1:c.1606G>C | ENSP00000508108.1:n.1606G>C | |
| ENST00000683243.1:c.*575G>C | ENSP00000507042.1:n.*575G>C | |
| ENST00000683463.1:c.*911G>C | ENSP00000507986.1:n.*911G>C | |
| ENST00000683548.1:n.1880G>C | ||
| ENST00000683579.1:c.*1320G>C | ENSP00000506867.1:n.*1320G>C | |
| ENST00000683587.1:n.1953G>C | ||
| ENST00000683681.1:c.*100G>C | ENSP00000508110.1:n.*100G>C | |
| ENST00000683735.1:c.*1820G>C | ENSP00000508336.1:n.*1820G>C | |
| ENST00000683853.1:c.*227G>C | ENSP00000506834.1:n.*227G>C | |
| ENST00000683860.1:c.*542G>C | ENSP00000507179.1:n.*542G>C | |
| ENST00000683884.1:c.*749G>C | ENSP00000507004.1:n.*749G>C | |
| ENST00000684041.1:c.*555G>C | ENSP00000508382.1:n.*555G>C | |
| ENST00000684125.1:c.*82G>C | ENSP00000507320.1:n.*82G>C | |
| ENST00000684203.1:n.3871G>C | ||
| ENST00000684231.1:c.*832G>C | ENSP00000507748.1:n.*832G>C | |
| ENST00000684263.1:c.*1046G>C | ENSP00000508369.1:n.*1046G>C | |
| ENST00000684305.1:c.1870G>C | ENSP00000506819.1:n.1870G>C | |
| ENST00000684415.1:c.*973G>C | ENSP00000507227.1:n.*973G>C | |
| ENST00000684520.1:c.*681G>C | ENSP00000506826.1:n.*681G>C | |
| ENST00000684602.1:c.*1088G>C | ENSP00000507996.1:n.*1088G>C | |
| ENST00000684667.1:c.1753G>C | ENSP00000507003.1:n.1753G>C | |
| ENST00000268097.10:c.1422G>C MANE Select | ENSP00000268097.6:p.Trp474Cys | |
| ENST00000268097.9:c.1422G>C | ENSP00000268097.5:p.Trp474Cys | |
| ENST00000379915.4:c.504G>C | ENSP00000478716.1:p.Trp168Cys | |
| ENST00000564677.5:n.214G>C | ||
| ENST00000565873.1:n.333G>C | ||
| ENST00000566304.5:c.1455G>C | ENSP00000455114.1:p.Trp485Cys | |
| ENST00000567027.5:c.1037G>C | ||
| ENST00000567159.5:c.1422G>C | ENSP00000456489.1:p.Trp474Cys | |
| ENST00000567411.5:c.*943G>C | ENSP00000455545.1:n.*943G>C | |
| ENST00000568777.5:n.6642G>C | ||
| ENST00000569116.1:n.129G>C | ||
| NM_000520.4:c.1422G>C | NP_000511.2:p.Trp474Cys | |
| NM_000520.5:c.1422G>C | NP_000511.2:p.Trp474Cys | |
| NM_001318825.1:c.1455G>C | NP_001305754.1:p.Trp485Cys | |
| NR_134869.1:n.1666G>C | ||
| NM_000520.6:c.1422G>C MANE Select | NP_000511.2:p.Trp474Cys | |
| NM_001318825.2:c.1455G>C | NP_001305754.1:p.Trp485Cys | |
| NR_134869.2:n.1207G>C | ||
| NR_134869.3:n.1207G>C |