Linked Data
dbSNP Id:
rs376787040
ExAC:
1:16458723 G / A
gnomAD v2:
1-16458723-G-A
gnomAD v3:
1-16132228-G-A
gnomAD v4:
1-16132228-G-A
COSMIC:
COSM1645519
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16132228G>A , CM000663.2:g.16132228G>A | GRCh38 |
| NC_000001.10:g.16458723G>A , CM000663.1:g.16458723G>A | GRCh37 |
| NC_000001.9:g.16331310G>A | NCBI36 |
| NG_021396.1:g.28860C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000358432.8:c.2161C>T MANE Select | ENSP00000351209.5:p.Arg721Trp | |
| ENST00000358432.7:c.2161C>T | ENSP00000351209.5:p.Arg721Trp | |
| NM_004431.3:c.2161C>T | NP_004422.2:p.Arg721Trp | |
| NM_001329090.1:c.1999C>T | NP_001316019.1:p.Arg667Trp | |
| NM_004431.4:c.2161C>T | NP_004422.2:p.Arg721Trp | |
| NM_004431.5:c.2161C>T MANE Select | NP_004422.2:p.Arg721Trp | |
| NM_001329090.2:c.1999C>T | NP_001316019.1:p.Arg667Trp |