Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.159588437T>C , CM000663.2:g.159588437T>C | GRCh38 |
| NC_000001.10:g.159558227T>C , CM000663.1:g.159558227T>C | GRCh37 |
| NC_000001.9:g.157824851T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001639.4:c.401T>C MANE Select | NP_001630.1:p.Val134Ala |
| ENST00000255040.3:c.401T>C MANE Select | ENSP00000255040.2:p.Val134Ala |
| NM_001639.3:c.401T>C | NP_001630.1:p.Val134Ala |
| ENST00000255040.2:c.401T>C | ENSP00000255040.2:p.Val134Ala |