Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.180642210G>C , CM000665.2:g.180642210G>C | GRCh38 |
| NC_000003.11:g.180359998G>C , CM000665.1:g.180359998G>C | GRCh37 |
| NC_000003.10:g.181842692G>C | NCBI36 |
| NG_029581.1:g.42286C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_181426.2:c.1666-9C>G MANE Select | NP_852091.1:n.1666-9C>G |
| ENST00000476379.6:c.1666-9C>G MANE Select | ENSP00000417960.2:n.1666-9C>G |
| NM_181426.1:c.1666-9C>G | NP_852091.1:n.1666-9C>G |
| ENST00000442201.6:c.1666-9C>G | ENSP00000405708.2:n.1666-9C>G |
| ENST00000476379.5:c.1666-9C>G | ENSP00000417960.1:n.1666-9C>G |
| ENST00000650641.1:n.1553-9C>G | |
| ENST00000651046.1:c.1474-9C>G | ENSP00000499175.1:n.1474-9C>G |
| ENST00000651922.1:n.991-9C>G | |
| ENST00000652408.1:n.1803-9C>G |