Linked Data
dbSNP Id:
rs201381904
ExAC:
1:173878960 C / T
gnomAD v2:
1-173878960-C-T
gnomAD v3:
1-173909822-C-T
gnomAD v4:
1-173909822-C-T
COSMIC:
COSM4763599
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173909822C>T , CM000663.2:g.173909822C>T | GRCh38 |
| NC_000001.10:g.173878960C>T , CM000663.1:g.173878960C>T | GRCh37 |
| NC_000001.9:g.172145583C>T | NCBI36 |
| NG_012462.1:g.12557G>A , LRG_577:g.12557G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367698.4:c.883G>A MANE Select | ENSP00000356671.3:p.Val295Met | |
| ENST00000367698.3:c.883G>A | ENSP00000356671.3:p.Val295Met | |
| ENST00000487183.1:n.534G>A | ||
| ENST00000617423.4:c.559+2042G>A | ENSP00000478688.1:n.559+2042G>A | |
| NM_000488.3:c.883G>A , LRG_577t1:c.883G>A | NP_000479.1:p.Val295Met | |
| XM_005245198.2:c.739G>A | XP_005245255.1:p.Val247Met | |
| NM_001365052.1:c.739G>A | NP_001351981.1:p.Val247Met | |
| NM_000488.4:c.883G>A MANE Select | NP_000479.1:p.Val295Met | |
| NM_001365052.2:c.739G>A | NP_001351981.1:p.Val247Met | |
| NM_001386302.1:c.1006G>A | NP_001373231.1:p.Val336Met | |
| NM_001386303.1:c.964G>A | NP_001373232.1:p.Val322Met | |
| NM_001386304.1:c.862G>A | NP_001373233.1:p.Val288Met | |
| NM_001386305.1:c.826G>A | NP_001373234.1:p.Val276Met | |
| NM_001386306.1:c.667G>A | NP_001373235.1:p.Val223Met |