Linked Data
dbSNP Id:
rs2682826
gnomAD v2:
12-117652838-G-A
gnomAD v3:
12-117215033-G-A
gnomAD v4:
12-117215033-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.117215033G>A , CM000674.2:g.117215033G>A | GRCh38 |
| NC_000012.11:g.117652838G>A , CM000674.1:g.117652838G>A | GRCh37 |
| NC_000012.10:g.116137221G>A | NCBI36 |
| NG_011991.2:g.151745C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000317775.11:c.*276C>T MANE Select | ENSP00000320758.6:n.*276C>T | |
| ENST00000317775.10:c.*276C>T | ENSP00000320758.6:n.*276C>T | |
| ENST00000618760.4:c.*276C>T | ENSP00000477999.1:n.*276C>T | |
| NM_000620.4:c.*276C>T | NP_000611.1:n.*276C>T | |
| NM_001204213.1:c.*276C>T | NP_001191142.1:n.*276C>T | |
| NM_001204214.1:c.*276C>T | NP_001191143.1:n.*276C>T | |
| NM_001204218.1:c.*276C>T | NP_001191147.1:n.*276C>T | |
| XM_011538398.1:c.*276C>T | XP_011536700.1:n.*276C>T | |
| NM_000620.5:c.*276C>T MANE Select | NP_000611.1:n.*276C>T | |
| NM_001204213.2:c.*276C>T | NP_001191142.1:n.*276C>T | |
| NM_001204214.2:c.*276C>T | NP_001191143.1:n.*276C>T | |
| NM_001204218.2:c.*276C>T | NP_001191147.1:n.*276C>T |