Linked Data
ClinVar Variation Id:
875346
dbSNP Id:
rs74146254
ExAC:
1:236925965 C / T
gnomAD v2:
1-236925965-C-T
gnomAD v3:
1-236762665-C-T
gnomAD v4:
1-236762665-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.236762665C>T , CM000663.2:g.236762665C>T | GRCh38 |
| NC_000001.10:g.236925965C>T , CM000663.1:g.236925965C>T | GRCh37 |
| NC_000001.9:g.234992588C>T | NCBI36 |
| NG_009081.1:g.81196C>T | |
| NG_009081.2:g.103525C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000542672.7:c.*46C>T | ENSP00000443495.1:n.*46C>T | |
| ENST00000461367.2:n.1027C>T | ||
| ENST00000492634.7:n.2661C>T | ||
| ENST00000682015.1:c.*46C>T | ENSP00000506961.1:n.*46C>T | |
| ENST00000682490.1:n.649C>T | ||
| ENST00000682692.1:n.3826C>T | ||
| ENST00000682966.1:n.8372C>T | ||
| ENST00000683111.1:c.*2017C>T | ENSP00000507913.1:n.*2017C>T | |
| ENST00000683322.1:n.4083C>T | ||
| ENST00000683805.1:n.1522C>T | ||
| ENST00000684050.1:n.5369C>T | ||
| ENST00000684122.1:n.2165C>T | ||
| ENST00000684286.1:n.4286C>T | ||
| ENST00000684502.1:n.4028C>T | ||
| ENST00000684763.1:n.1346C>T | ||
| ENST00000366578.6:c.*46C>T MANE Select | ENSP00000355537.4:n.*46C>T | |
| ENST00000492634.6:n.2661C>T | ||
| ENST00000542672.6:c.*46C>T | ENSP00000443495.1:n.*46C>T | |
| ENST00000651275.1:c.2623C>T | ENSP00000498926.1:n.2623C>T | |
| ENST00000651781.1:c.1811C>T | ||
| ENST00000651786.1:c.*2103C>T | ENSP00000498364.1:n.*2103C>T | |
| ENST00000652096.1:c.*2136C>T | ENSP00000498896.1:n.*2136C>T | |
| ENST00000366578.5:c.*46C>T | ENSP00000355537.4:n.*46C>T | |
| ENST00000542672.5:c.*46C>T | ENSP00000443495.1:n.*46C>T | |
| ENST00000546208.5:c.*46C>T | ENSP00000438384.2:n.*46C>T | |
| NM_001103.3:c.*46C>T | NP_001094.1:n.*46C>T | |
| NM_001278343.1:c.*46C>T | NP_001265272.1:n.*46C>T | |
| NM_001278344.1:c.*46C>T | NP_001265273.1:n.*46C>T | |
| NM_001278343.2:c.*46C>T | NP_001265272.1:n.*46C>T | |
| NM_001103.4:c.*46C>T MANE Select | NP_001094.1:n.*46C>T | |
| NM_001278344.2:c.*46C>T | NP_001265273.1:n.*46C>T |