Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.72122970C>A , CM000679.2:g.72122970C>A | GRCh38 |
| NC_000017.10:g.70119111C>A , CM000679.1:g.70119111C>A | GRCh37 |
| NC_000017.9:g.67630706C>A | NCBI36 |
| NG_012490.1:g.6951C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000346.4:c.683C>A MANE Select | NP_000337.1:p.Ser228Ter |
| ENST00000245479.3:c.683C>A MANE Select | ENSP00000245479.2:p.Ser228Ter |
| NM_000346.3:c.683C>A | NP_000337.1:p.Ser228Ter |
| ENST00000245479.2:c.683C>A | ENSP00000245479.2:p.Ser228Ter |