Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.639830T>A , CM000673.2:g.639830T>A | GRCh38 |
| NC_000011.9:g.639830T>A , CM000673.1:g.639830T>A | GRCh37 |
| NC_000011.8:g.629830T>A | NCBI36 |
| NG_021241.1:g.7526T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000797.4:c.581T>A MANE Select | NP_000788.2:p.Val194Asp |
| ENST00000176183.6:c.581T>A MANE Select | ENSP00000176183.5:p.Val194Asp |
| NM_000797.3:c.581T>A | NP_000788.2:p.Val194Asp |
| ENST00000176183.5:c.581T>A | ENSP00000176183.5:p.Val194Asp |