Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153694748C>A , CM000685.2:g.153694748C>A | GRCh38 |
| NC_000023.10:g.152960203C>A , CM000685.1:g.152960203C>A | GRCh37 |
| NC_000023.9:g.152613397C>A | NCBI36 |
| NG_012016.1:g.11452C>A | |
| NG_012016.2:g.11452C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005629.4:c.1626C>A MANE Select | NP_005620.1:p.Tyr542Ter |
| ENST00000253122.10:c.1626C>A MANE Select | ENSP00000253122.5:p.Tyr542Ter |
| NM_001142805.1:c.1596C>A | NP_001136277.1:p.Tyr532Ter |
| NM_001142805.2:c.1596C>A | NP_001136277.1:p.Tyr532Ter |
| NM_001142806.1:c.1281C>A | NP_001136278.1:p.Tyr427Ter |
| NM_005629.3:c.1626C>A | NP_005620.1:p.Tyr542Ter |
| ENST00000253122.9:c.1626C>A | ENSP00000253122.5:p.Tyr542Ter |
| ENST00000430077.6:c.1281C>A | ENSP00000403041.2:p.Tyr427Ter |
| ENST00000485324.1:n.1933C>A |