Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135920591G>A , CM000664.2:g.135920591G>A | GRCh38 |
| NC_000002.11:g.136678161G>A , CM000664.1:g.136678161G>A | GRCh37 |
| NC_000002.10:g.136394631G>A | NCBI36 |
| NG_034149.1:g.70094C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001349.4:c.821C>T MANE Select | NP_001340.2:p.Ala274Val |
| ENST00000264161.9:c.821C>T MANE Select | ENSP00000264161.4:p.Ala274Val |
| NM_001293312.1:c.521C>T | NP_001280241.1:p.Ala174Val |
| NM_001349.3:c.821C>T | NP_001340.2:p.Ala274Val |
| ENST00000264161.8:c.821C>T | ENSP00000264161.4:p.Ala274Val |