Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.180631513G>A , CM000665.2:g.180631513G>A | GRCh38 |
| NC_000003.11:g.180349301G>A , CM000665.1:g.180349301G>A | GRCh37 |
| NC_000003.10:g.181831995G>A | NCBI36 |
| NG_029581.1:g.52983C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_181426.2:c.1954C>T MANE Select | NP_852091.1:p.Pro652Ser |
| ENST00000476379.6:c.1954C>T MANE Select | ENSP00000417960.2:p.Pro652Ser |
| NM_181426.1:c.1954C>T | NP_852091.1:p.Pro652Ser |
| ENST00000442201.6:c.1954C>T | ENSP00000405708.2:p.Pro652Ser |
| ENST00000476379.5:c.1954C>T | ENSP00000417960.1:p.Pro652Ser |
| ENST00000650641.1:n.1841C>T | |
| ENST00000651046.1:c.1762C>T | ENSP00000499175.1:p.Pro588Ser |
| ENST00000651922.1:n.1279C>T | |
| ENST00000652408.1:n.2091C>T |