Linked Data
ClinVar Variation Id:
373652
dbSNP Id:
rs141563497
ExAC:
1:236925785 C / T
gnomAD v2:
1-236925785-C-T
gnomAD v3:
1-236762485-C-T
gnomAD v4:
1-236762485-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.236762485C>T , CM000663.2:g.236762485C>T | GRCh38 |
| NC_000001.10:g.236925785C>T , CM000663.1:g.236925785C>T | GRCh37 |
| NC_000001.9:g.234992408C>T | NCBI36 |
| NG_009081.1:g.81016C>T | |
| NG_009081.2:g.103345C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000542672.7:c.2551C>T | ENSP00000443495.1:p.Arg851Cys | |
| ENST00000461367.2:n.847C>T | ||
| ENST00000492634.7:n.2481C>T | ||
| ENST00000682015.1:c.2458C>T | ENSP00000506961.1:p.Arg820Cys | |
| ENST00000682490.1:n.469C>T | ||
| ENST00000682692.1:n.3646C>T | ||
| ENST00000682966.1:n.8192C>T | ||
| ENST00000683111.1:c.*1837C>T | ENSP00000507913.1:n.*1837C>T | |
| ENST00000683322.1:n.3903C>T | ||
| ENST00000683805.1:n.1342C>T | ||
| ENST00000684050.1:n.5189C>T | ||
| ENST00000684122.1:n.1985C>T | ||
| ENST00000684286.1:n.4106C>T | ||
| ENST00000684502.1:n.3848C>T | ||
| ENST00000684763.1:n.1166C>T | ||
| ENST00000366578.6:c.2551C>T MANE Select | ENSP00000355537.4:p.Arg851Cys | |
| ENST00000492634.6:n.2481C>T | ||
| ENST00000542672.6:c.2551C>T | ENSP00000443495.1:p.Arg851Cys | |
| ENST00000651091.1:c.2241C>T | ENSP00000498677.1:n.2241C>T | |
| ENST00000651275.1:c.2443C>T | ENSP00000498926.1:p.Arg815Cys | |
| ENST00000651781.1:c.1631C>T | ||
| ENST00000651786.1:c.*1923C>T | ENSP00000498364.1:n.*1923C>T | |
| ENST00000652096.1:c.*1956C>T | ENSP00000498896.1:n.*1956C>T | |
| ENST00000366578.5:c.2551C>T | ENSP00000355537.4:p.Arg851Cys | |
| ENST00000461367.1:n.760C>T | ||
| ENST00000542672.5:c.2551C>T | ENSP00000443495.1:p.Arg851Cys | |
| ENST00000546208.5:c.1927C>T | ENSP00000438384.2:p.Arg643Cys | |
| NM_001103.3:c.2551C>T | NP_001094.1:p.Arg851Cys | |
| NM_001278343.1:c.2551C>T | NP_001265272.1:p.Arg851Cys | |
| NM_001278344.1:c.1927C>T | NP_001265273.1:p.Arg643Cys | |
| NM_001278343.2:c.2551C>T | NP_001265272.1:p.Arg851Cys | |
| NM_001103.4:c.2551C>T MANE Select | NP_001094.1:p.Arg851Cys | |
| NM_001278344.2:c.1927C>T | NP_001265273.1:p.Arg643Cys |