Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7513330C>A , CM000679.2:g.7513330C>A | GRCh38 |
| NC_000017.10:g.7416649C>A , CM000679.1:g.7416649C>A | GRCh37 |
| NC_000017.9:g.7357373C>A | NCBI36 |
| NG_027747.1:g.33952C>A | |
| NG_027747.2:g.33952C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000937.5:c.5066C>A MANE Select | NP_000928.1:p.Ser1689Tyr |
| NM_000937.4:c.5066C>A | NP_000928.1:p.Ser1689Tyr |
| ENST00000617998.4:c.5066C>A | ENSP00000480158.1:p.Ser1689Tyr |
| ENST00000617998.6:n.5465C>A | |
| ENST00000621442.4:c.5066C>A | ENSP00000483957.1:p.Ser1689Tyr |
| ENST00000674977.2:c.5066C>A | ENSP00000502190.2:p.Ser1689Tyr |