Linked Data
dbSNP Id:
rs913662772
gnomAD v2:
13-47467044-G-A
gnomAD v3:
13-46892909-G-A
gnomAD v4:
13-46892909-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.46892909G>A , CM000675.2:g.46892909G>A | GRCh38 |
| NC_000013.10:g.47467044G>A , CM000675.1:g.47467044G>A | GRCh37 |
| NC_000013.9:g.46365045G>A | NCBI36 |
| NG_013011.1:g.9126C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000542664.4:c.413-319C>T MANE Select | ENSP00000437737.1:n.413-319C>T | |
| ENST00000543956.5:c.-77-319C>T | ENSP00000441861.2:n.-77-319C>T | |
| ENST00000378688.8:c.413-319C>T | ENSP00000367959.3:n.413-319C>T | |
| ENST00000542664.3:c.413-319C>T | ENSP00000437737.1:n.413-319C>T | |
| ENST00000543956.4:c.161-319C>T | ENSP00000441861.1:n.161-319C>T | |
| NM_000621.4:c.413-319C>T | NP_000612.1:n.413-319C>T | |
| NM_001165947.2:c.161-319C>T | NP_001159419.1:n.161-319C>T | |
| NM_000621.5:c.413-319C>T MANE Select | NP_000612.1:n.413-319C>T | |
| NM_001165947.5:c.-77-319C>T | NP_001159419.2:n.-77-319C>T | |
| NM_001378924.1:c.413-319C>T | NP_001365853.1:n.413-319C>T |