Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.33026199C>A , CM000683.2:g.33026199C>A | GRCh38 |
| NC_000021.8:g.34398507C>A , CM000683.1:g.34398507C>A | GRCh37 |
| NC_000021.7:g.33320377C>A | NCBI36 |
| NG_011834.1:g.5269C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382357.4:c.-63+173C>A MANE Select | ENSP00000371794.3:n.-63+173C>A | |
| ENST00000333337.3:c.-664C>A | ENSP00000331040.3:n.-664C>A | |
| ENST00000382357.3:c.-63+173C>A | ENSP00000371794.3:n.-63+173C>A | |
| ENST00000430860.1:c.-124C>A | ENSP00000391183.1:n.-124C>A | |
| NM_005806.3:c.-63+173C>A | NP_005797.1:n.-63+173C>A | |
| XM_005260908.1:c.-124C>A | XP_005260965.1:n.-124C>A | |
| NM_005806.4:c.-63+173C>A MANE Select | NP_005797.1:n.-63+173C>A |