Linked Data
dbSNP Id:
rs763569743
ExAC:
3:119530390 C / T
gnomAD v2:
3-119530390-C-T
gnomAD v3:
3-119811543-C-T
gnomAD v4:
3-119811543-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119811543C>T , CM000665.2:g.119811543C>T | GRCh38 |
| NC_000003.11:g.119530390C>T , CM000665.1:g.119530390C>T | GRCh37 |
| NC_000003.10:g.121013080C>T | NCBI36 |
| NG_011856.1:g.36060C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393716.8:c.336C>T MANE Select | ENSP00000377319.3:p.Ile112= | |
| ENST00000466380.6:c.336C>T | ENSP00000420297.2:p.Ile112= | |
| ENST00000337940.4:c.453C>T | ENSP00000336528.4:p.Ile151= | |
| ENST00000393716.6:c.336C>T | ENSP00000377319.2:p.Ile112= | |
| ENST00000466380.5:c.336C>T | ENSP00000420297.1:p.Ile112= | |
| ENST00000493757.1:n.468C>T | ||
| NM_003889.3:c.336C>T | NP_003880.3:p.Ile112= | |
| NM_022002.2:c.453C>T | NP_071285.1:p.Ile151= | |
| NM_033013.2:c.336C>T | NP_148934.1:p.Ile112= | |
| NM_003889.4:c.336C>T MANE Select | NP_003880.3:p.Ile112= | |
| NM_022002.3:c.453C>T | NP_071285.1:p.Ile151= | |
| NM_033013.3:c.336C>T | NP_148934.1:p.Ile112= |