Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.70088392C>A , CM000664.2:g.70088392C>A | GRCh38 |
| NC_000002.11:g.70315524C>A , CM000664.1:g.70315524C>A | GRCh37 |
| NC_000002.10:g.70169028C>A | NCBI36 |
| NG_029956.1:g.5940C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006196.4:c.649C>A MANE Select | NP_006187.2:p.Pro217Thr |
| ENST00000303577.7:c.649C>A MANE Select | ENSP00000305556.5:p.Pro217Thr |
| NM_006196.3:c.649C>A | NP_006187.2:p.Pro217Thr |
| ENST00000303577.6:c.649C>A | ENSP00000305556.5:p.Pro217Thr |