Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.118206855C>A , CM000668.2:g.118206855C>A | GRCh38 |
| NC_000006.11:g.118528018C>A , CM000668.1:g.118528018C>A | GRCh37 |
| NC_000006.10:g.118634711C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360388.9:c.350-28654C>A MANE Select | ENSP00000353557.4:n.350-28654C>A | |
| ENST00000360388.8:c.350-28654C>A | ENSP00000353557.4:n.350-28654C>A | |
| ENST00000621341.1:c.173-28654C>A | ENSP00000484738.1:n.173-28654C>A | |
| NM_001029858.3:c.350-28654C>A | NP_001025029.2:n.350-28654C>A | |
| XM_005266865.3:c.350-28654C>A | XP_005266922.1:n.350-28654C>A | |
| XM_005266865.4:c.350-28654C>A | XP_005266922.1:n.350-28654C>A | |
| NM_001029858.4:c.350-28654C>A MANE Select | NP_001025029.2:n.350-28654C>A |