Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.76347054A>C , CM000674.2:g.76347054A>C | GRCh38 |
| NC_000012.11:g.76740834A>C , CM000674.1:g.76740834A>C | GRCh37 |
| NC_000012.10:g.75264965A>C | NCBI36 |
| NG_016357.1:g.6389T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_024685.4:c.931T>G MANE Select | NP_078961.3:p.Ser311Ala |
| ENST00000650064.2:c.931T>G MANE Select | ENSP00000497413.1:p.Ser311Ala |
| NM_024685.3:c.931T>G | NP_078961.3:p.Ser311Ala |
| ENST00000393262.3:c.931T>G | ENSP00000376946.3:p.Ser311Ala |