Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.6112290G>A , CM000663.2:g.6112290G>A | GRCh38 |
| NC_000001.10:g.6172350G>A , CM000663.1:g.6172350G>A | GRCh37 |
| NC_000001.9:g.6094937G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262450.8:c.5003-13C>T MANE Select | ENSP00000262450.3:n.5003-13C>T | |
| ENST00000262450.7:c.5003-13C>T | ENSP00000262450.3:n.5003-13C>T | |
| ENST00000377999.5:c.1906-13C>T | ENSP00000367238.2:n.1906-13C>T | |
| ENST00000462991.5:c.3256-13C>T | ||
| ENST00000496404.1:c.3721-13C>T | ENSP00000433676.1:n.3721-13C>T | |
| NM_015557.2:c.5003-13C>T | NP_056372.1:n.5003-13C>T | |
| NM_015557.3:c.5003-13C>T MANE Select | NP_056372.1:n.5003-13C>T |