Linked Data
dbSNP Id:
rs17277546
gnomAD v2:
7-99489571-G-A
gnomAD v3:
7-99891948-G-A
gnomAD v4:
7-99891948-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.99891948G>A , CM000669.2:g.99891948G>A | GRCh38 |
| NC_000007.13:g.99489571G>A , CM000669.1:g.99489571G>A | GRCh37 |
| NC_000007.12:g.99327507G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000349062.7:c.*215C>T MANE Select | ENSP00000275736.4:n.*215C>T | |
| ENST00000349062.6:c.*215C>T | ENSP00000275736.4:n.*215C>T | |
| ENST00000355947.6:c.*215C>T | ENSP00000348216.2:n.*215C>T | |
| ENST00000447480.5:c.545+11270C>T | ||
| NM_033017.3:c.*215C>T | NP_148977.2:n.*215C>T | |
| NM_033091.2:c.*215C>T | NP_149082.1:n.*215C>T | |
| NM_033017.4:c.*215C>T | NP_148977.2:n.*215C>T | |
| NM_033091.3:c.*215C>T MANE Select | NP_149082.1:n.*215C>T |