Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218164625G>A , CM000664.2:g.218164625G>A | GRCh38 |
| NC_000002.11:g.219029348G>A , CM000664.1:g.219029348G>A | GRCh37 |
| NC_000002.10:g.218737593G>A | NCBI36 |
| NG_011814.1:g.7369C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000634.3:c.587C>T MANE Select | NP_000625.1:p.Ala196Val |
| ENST00000295683.3:c.587C>T MANE Select | ENSP00000295683.2:p.Ala196Val |
| NM_000634.2:c.587C>T | NP_000625.1:p.Ala196Val |
| ENST00000295683.2:c.587C>T | ENSP00000295683.2:p.Ala196Val |