Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.39777496G>A , CM000683.2:g.39777496G>A | GRCh38 |
| NC_000021.8:g.41149423G>A , CM000683.1:g.41149423G>A | GRCh37 |
| NC_000021.7:g.40071293G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000380588.5:c.719-1594G>A MANE Select | ENSP00000369962.4:n.719-1594G>A | |
| ENST00000380588.4:c.719-1594G>A | ENSP00000369962.4:n.719-1594G>A | |
| ENST00000479378.1:n.825-1594G>A | ||
| NM_001080444.1:c.719-1594G>A | NP_001073913.1:n.719-1594G>A | |
| XM_011529472.1:c.989-1594G>A | XP_011527774.1:n.989-1594G>A | |
| XM_011529473.1:c.989-1594G>A | XP_011527775.1:n.989-1594G>A | |
| XM_011529472.2:c.989-1594G>A | XP_011527774.1:n.989-1594G>A | |
| NM_001080444.2:c.719-1594G>A MANE Select | NP_001073913.1:n.719-1594G>A |