Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.57949422T>G , CM000678.2:g.57949422T>G | GRCh38 |
| NC_000016.9:g.57983326T>G , CM000678.1:g.57983326T>G | GRCh37 |
| NC_000016.8:g.56540827T>G | NCBI36 |
| NG_016351.1:g.26695A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251102.13:c.1052A>C MANE Select | ENSP00000251102.8:p.Glu351Ala | |
| ENST00000251102.12:c.1052A>C | ENSP00000251102.8:p.Glu351Ala | |
| ENST00000564448.5:c.1034A>C | ENSP00000454633.1:p.Glu345Ala | |
| NM_001286130.1:c.1034A>C | NP_001273059.1:p.Glu345Ala | |
| NM_001297.4:c.1052A>C | NP_001288.3:p.Glu351Ala | |
| XM_006721134.2:c.1052A>C | XP_006721197.1:p.Glu351Ala | |
| NM_001286130.2:c.1034A>C | NP_001273059.1:p.Glu345Ala | |
| NM_001297.5:c.1052A>C MANE Select | NP_001288.3:p.Glu351Ala |