Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42404811T>G , CM000679.2:g.42404811T>G | GRCh38 |
| NC_000017.10:g.40556829T>G , CM000679.1:g.40556829T>G | GRCh37 |
| NC_000017.9:g.37810355T>G | NCBI36 |
| NG_015845.1:g.23510A>C | |
| NG_015845.2:g.23510A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357037.6:c.1049A>C MANE Select | ENSP00000349541.4:p.Glu350Ala | |
| ENST00000357037.5:c.1049A>C | ENSP00000349541.4:p.Glu350Ala | |
| NM_012232.5:c.1049A>C | NP_036364.2:p.Glu350Ala | |
| NM_012232.6:c.1049A>C MANE Select | NP_036364.2:p.Glu350Ala |