Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81490460A>G , CM000665.2:g.81490460A>G | GRCh38 |
| NC_000003.11:g.81539611A>G , CM000665.1:g.81539611A>G | GRCh37 |
| NC_000003.10:g.81622301A>G | NCBI36 |
| NG_011810.1:g.276341T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429644.7:c.2056T>C MANE Select | ENSP00000410833.2:p.Tyr686His | |
| ENST00000429644.6:c.2056T>C | ENSP00000410833.2:p.Tyr686His | |
| ENST00000489715.1:c.1933T>C | ENSP00000419638.1:p.Tyr645His | |
| NM_000158.3:c.2056T>C | NP_000149.3:p.Tyr686His | |
| NM_000158.4:c.2056T>C MANE Select | NP_000149.4:p.Tyr686His |