Linked Data
dbSNP Id:
rs6951209
gnomAD v2:
7-1273821-A-T
gnomAD v3:
7-1234185-A-T
gnomAD v4:
7-1234185-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.1234185A>T , CM000669.2:g.1234185A>T | GRCh38 |
| NC_000007.13:g.1273821A>T , CM000669.1:g.1273821A>T | GRCh37 |
| NC_000007.12:g.1240347A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000316333.9:c.450+490A>T MANE Select | ENSP00000314480.8:n.450+490A>T | |
| ENST00000316333.8:c.450+490A>T | ENSP00000314480.8:n.450+490A>T | |
| NM_001080461.1:c.450+490A>T | NP_001073930.1:n.450+490A>T | |
| NM_001080461.2:c.450+490A>T | NP_001073930.1:n.450+490A>T | |
| NM_001080461.3:c.450+490A>T MANE Select | NP_001073930.1:n.450+490A>T |