Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.180641993C>T , CM000665.2:g.180641993C>T | GRCh38 |
| NC_000003.11:g.180359781C>T , CM000665.1:g.180359781C>T | GRCh37 |
| NC_000003.10:g.181842475C>T | NCBI36 |
| NG_029581.1:g.42503G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_181426.2:c.1874G>A MANE Select | NP_852091.1:p.Ser625Asn |
| ENST00000476379.6:c.1874G>A MANE Select | ENSP00000417960.2:p.Ser625Asn |
| NM_181426.1:c.1874G>A | NP_852091.1:p.Ser625Asn |
| ENST00000442201.6:c.1874G>A | ENSP00000405708.2:p.Ser625Asn |
| ENST00000476379.5:c.1874G>A | ENSP00000417960.1:p.Ser625Asn |
| ENST00000650641.1:n.1761G>A | |
| ENST00000651046.1:c.1682G>A | ENSP00000499175.1:p.Ser561Asn |
| ENST00000651922.1:n.1199G>A | |
| ENST00000652408.1:n.2011G>A |