Linked Data
dbSNP Id:
rs13179413
gnomAD v2:
5-55868097-C-T
gnomAD v3:
5-56572270-C-T
gnomAD v4:
5-56572270-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.56572270C>T , CM000667.2:g.56572270C>T | GRCh38 |
| NC_000005.9:g.55868097C>T , CM000667.1:g.55868097C>T | GRCh37 |
| NC_000005.8:g.55903854C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000438651.5:c.-15-16083G>A | ENSP00000406718.1:n.-15-16083G>A | |
| NM_001287053.1:c.-15-16083G>A | NP_001273982.1:n.-15-16083G>A | |
| XM_017008942.1:c.-628-390G>A | XP_016864431.1:n.-628-390G>A | |
| NR_161255.1:n.236-16083G>A |