Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.180641991A>G , CM000665.2:g.180641991A>G | GRCh38 |
| NC_000003.11:g.180359779A>G , CM000665.1:g.180359779A>G | GRCh37 |
| NC_000003.10:g.181842473A>G | NCBI36 |
| NG_029581.1:g.42505T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_181426.2:c.1874+2T>C MANE Select | NP_852091.1:n.1874+2T>C |
| ENST00000476379.6:c.1874+2T>C MANE Select | ENSP00000417960.2:n.1874+2T>C |
| NM_181426.1:c.1874+2T>C | NP_852091.1:n.1874+2T>C |
| ENST00000442201.6:c.1874+2T>C | ENSP00000405708.2:n.1874+2T>C |
| ENST00000476379.5:c.1874+2T>C | ENSP00000417960.1:n.1874+2T>C |
| ENST00000650641.1:n.1761+2T>C | |
| ENST00000651046.1:c.1682+2T>C | ENSP00000499175.1:n.1682+2T>C |
| ENST00000651922.1:n.1199+2T>C | |
| ENST00000652408.1:n.2011+2T>C |