Linked Data
ClinVar Variation Id:
21545
dbSNP Id:
rs113993998
ExAC:
7:66453459 G / A
gnomAD v2:
7-66453459-G-A
gnomAD v4:
7-66988472-G-A
COSMIC:
COSM3882097
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.66988472G>A , CM000669.2:g.66988472G>A | GRCh38 |
| NC_000007.13:g.66453459G>A , CM000669.1:g.66453459G>A | GRCh37 |
| NC_000007.12:g.66090894G>A | NCBI36 |
| NG_007277.1:g.12130C>T , LRG_104:g.12130C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000414306.6:c.*383C>T | ENSP00000394586.1:n.*383C>T | |
| ENST00000697860.1:n.619C>T | ||
| ENST00000697861.1:c.451C>T | ENSP00000513460.1:p.Arg151Ter | |
| ENST00000697862.1:c.*93C>T | ENSP00000513461.1:n.*93C>T | |
| ENST00000697863.1:c.595C>T | ENSP00000513462.1:p.Arg199Ter | |
| ENST00000697864.1:n.1796C>T | ||
| ENST00000697865.1:c.595C>T | ENSP00000513463.1:p.Arg199Ter | |
| ENST00000697866.1:c.334C>T | ENSP00000513464.1:p.Arg112Ter | |
| ENST00000697867.1:c.630C>T | ||
| ENST00000697868.1:c.*416C>T | ENSP00000513466.1:n.*416C>T | |
| ENST00000697897.1:c.652C>T | ENSP00000513469.1:p.Arg218Ter | |
| ENST00000246868.7:c.652C>T MANE Select | ENSP00000246868.2:p.Arg218Ter | |
| ENST00000246868.6:c.652C>T | ENSP00000246868.2:p.Arg218Ter | |
| ENST00000414306.5:c.*383C>T | ENSP00000394586.1:n.*383C>T | |
| ENST00000617799.1:c.652C>T | ENSP00000483040.1:p.Arg218Ter | |
| NM_016038.2:c.652C>T , LRG_104t1:c.652C>T | NP_057122.2:p.Arg218Ter | |
| NM_016038.3:c.652C>T | NP_057122.2:p.Arg218Ter | |
| NM_016038.4:c.652C>T MANE Select | NP_057122.2:p.Arg218Ter |