Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1535714A>G , CM000663.2:g.1535714A>G | GRCh38 |
| NC_000001.10:g.1471094A>G , CM000663.1:g.1471094A>G | GRCh37 |
| NC_000001.9:g.1460957A>G | NCBI36 |
| NG_041807.1:g.9647T>C | |
| NG_053035.1:g.28572A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378733.9:c.248T>C MANE Select | ENSP00000368007.4:p.Val83Ala | |
| ENST00000378733.8:c.248T>C | ENSP00000368007.4:p.Val83Ala | |
| ENST00000425828.1:c.248T>C | ENSP00000400311.1:p.Val83Ala | |
| NM_001114748.1:c.248T>C | NP_001108220.1:p.Val83Ala | |
| NM_001114748.2:c.248T>C MANE Select | NP_001108220.1:p.Val83Ala |