Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.39777498C>G , CM000683.2:g.39777498C>G | GRCh38 |
| NC_000021.8:g.41149425C>G , CM000683.1:g.41149425C>G | GRCh37 |
| NC_000021.7:g.40071295C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000380588.5:c.719-1592C>G MANE Select | ENSP00000369962.4:n.719-1592C>G | |
| ENST00000380588.4:c.719-1592C>G | ENSP00000369962.4:n.719-1592C>G | |
| ENST00000479378.1:n.825-1592C>G | ||
| NM_001080444.1:c.719-1592C>G | NP_001073913.1:n.719-1592C>G | |
| XM_011529472.1:c.989-1592C>G | XP_011527774.1:n.989-1592C>G | |
| XM_011529473.1:c.989-1592C>G | XP_011527775.1:n.989-1592C>G | |
| XM_011529472.2:c.989-1592C>G | XP_011527774.1:n.989-1592C>G | |
| NM_001080444.2:c.719-1592C>G MANE Select | NP_001073913.1:n.719-1592C>G |