Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.180631593C>G , CM000665.2:g.180631593C>G | GRCh38 |
| NC_000003.11:g.180349381C>G , CM000665.1:g.180349381C>G | GRCh37 |
| NC_000003.10:g.181832075C>G | NCBI36 |
| NG_029581.1:g.52903G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_181426.2:c.1875-1G>C MANE Select | NP_852091.1:n.1875-1G>C |
| ENST00000476379.6:c.1875-1G>C MANE Select | ENSP00000417960.2:n.1875-1G>C |
| NM_181426.1:c.1875-1G>C | NP_852091.1:n.1875-1G>C |
| ENST00000442201.6:c.1875-1G>C | ENSP00000405708.2:n.1875-1G>C |
| ENST00000476379.5:c.1875-1G>C | ENSP00000417960.1:n.1875-1G>C |
| ENST00000650641.1:n.1762-1G>C | |
| ENST00000651046.1:c.1683-1G>C | ENSP00000499175.1:n.1683-1G>C |
| ENST00000651922.1:n.1200-1G>C | |
| ENST00000652408.1:n.2012-1G>C |