Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15440577G= , CM000663.2:g.15440577G= | GRCh38 |
| NC_000001.10:g.15767073G= , CM000663.1:g.15767073G= | GRCh37 |
| NC_000001.9:g.15639660G= | NCBI36 |
| NG_009253.1:g.7136G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375949.5:c.217G= MANE Select | ENSP00000365116.4:p.Ala73= | |
| ENST00000375943.6:c.41-1870G= | ENSP00000365110.2:n.41-1870G= | |
| ENST00000375949.4:c.217G= | ENSP00000365116.4:p.Ala73= | |
| ENST00000476813.5:n.53-1870G= | ||
| ENST00000483406.1:n.127G= | ||
| NM_007272.2:c.217G= | NP_009203.2:p.Ala73= | |
| XM_011540550.1:c.217G= | XP_011538852.1:p.Ala73= | |
| NM_007272.3:c.217G= MANE Select | NP_009203.2:p.Ala73= |