Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.26623331C>A , CM000684.2:g.26623331C>A | GRCh38 |
| NC_000022.10:g.27019295C>A , CM000684.1:g.27019295C>A | GRCh37 |
| NC_000022.9:g.25349295C>A | NCBI36 |
| NG_009825.1:g.6368C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001886.3:c.137C>A MANE Select | NP_001877.1:p.Ser46Tyr |
| ENST00000354760.4:c.137C>A MANE Select | ENSP00000346805.3:p.Ser46Tyr |
| NM_001886.2:c.137C>A | NP_001877.1:p.Ser46Tyr |
| ENST00000354760.3:c.137C>A | ENSP00000346805.3:p.Ser46Tyr |
| ENST00000466315.1:n.55+696C>A | |
| XM_006724140.2:c.152C>A | XP_006724203.1:p.Ser51Tyr |
| XM_006724140.3:c.152C>A | XP_006724203.1:p.Ser51Tyr |
| XM_011529898.1:c.251C>A | XP_011528200.1:p.Ser84Tyr |
| XM_017028598.1:c.170C>A | XP_016884087.1:p.Ser57Tyr |