Linked Data
dbSNP Id:
rs1338131195
gnomAD v3:
5-151822816-C-T
gnomAD v4:
5-151822816-C-T
COSMIC:
COSM4523749
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151822816C>T , CM000667.2:g.151822816C>T | GRCh38 |
| NC_000005.9:g.151202377C>T , CM000667.1:g.151202377C>T | GRCh37 |
| NC_000005.8:g.151182570C>T | NCBI36 |
| NG_011764.1:g.107021G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000274576.9:c.1207G>A MANE Select | ENSP00000274576.5:p.Glu403Lys | |
| ENST00000274576.8:c.1207G>A | ENSP00000274576.4:p.Glu403Lys | |
| ENST00000455880.2:c.1231G>A | ENSP00000411593.2:p.Glu411Lys | |
| ENST00000462581.6:c.*965G>A | ENSP00000430595.1:n.*965G>A | |
| NM_000171.3:c.1207G>A | NP_000162.2:p.Glu403Lys | |
| NM_001146040.1:c.1231G>A | NP_001139512.1:p.Glu411Lys | |
| NM_001292000.1:c.958G>A | NP_001278929.1:p.Glu320Lys | |
| NM_000171.4:c.1207G>A MANE Select | NP_000162.2:p.Glu403Lys | |
| NM_001146040.2:c.1231G>A | NP_001139512.1:p.Glu411Lys | |
| NM_001292000.2:c.958G>A | NP_001278929.1:p.Glu320Lys |