Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102119753G= , CM000674.2:g.102119753G= | GRCh38 |
| NC_000012.11:g.102513531G= , CM000674.1:g.102513531G= | GRCh37 |
| NC_000012.10:g.101037661G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_024057.4:c.-66+297C= MANE Select | NP_076962.2:n.-66+297C= |
| ENST00000552283.6:c.-66+297C= MANE Select | ENSP00000448054.1:n.-66+297C= |
| NM_024057.3:c.-66+297C= | NP_076962.2:n.-66+297C= |
| ENST00000543021.5:n.40+297C= | |
| ENST00000548994.1:n.41+297C= | |
| ENST00000551200.5:n.42+297C= | |
| ENST00000551744.2:c.-66+297C= | ENSP00000448086.1:n.-66+297C= |
| ENST00000552283.5:c.-66+297C= | ENSP00000448054.1:n.-66+297C= |
| XM_005269144.2:c.-66+297C= | XP_005269201.1:n.-66+297C= |
| XR_944712.1:n.90+297C= | |
| XR_944712.2:n.82+297C= |