Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.19212859A>C , CM000682.2:g.19212859A>C | GRCh38 |
| NC_000020.10:g.19193503A>C , CM000682.1:g.19193503A>C | GRCh37 |
| NC_000020.9:g.19141503A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020689.4:c.17A>C MANE Select | NP_065740.2:p.Asp6Ala |
| ENST00000328041.11:c.17A>C MANE Select | ENSP00000333519.5:p.Asp6Ala |
| NM_020689.3:c.17A>C | NP_065740.2:p.Asp6Ala |
| ENST00000328041.10:c.17A>C | ENSP00000333519.5:p.Asp6Ala |
| ENST00000613834.1:c.17A>C | ENSP00000482967.1:p.Asp6Ala |