Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.180641992C>T , CM000665.2:g.180641992C>T | GRCh38 |
| NC_000003.11:g.180359780C>T , CM000665.1:g.180359780C>T | GRCh37 |
| NC_000003.10:g.181842474C>T | NCBI36 |
| NG_029581.1:g.42504G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000476379.6:c.1874+1G>A MANE Select | ENSP00000417960.2:n.1874+1G>A | |
| ENST00000650641.1:n.1761+1G>A | ||
| ENST00000651046.1:c.1682+1G>A | ENSP00000499175.1:n.1682+1G>A | |
| ENST00000651922.1:n.1199+1G>A | ||
| ENST00000652408.1:n.2011+1G>A | ||
| ENST00000442201.6:c.1874+1G>A | ENSP00000405708.2:n.1874+1G>A | |
| ENST00000476379.5:c.1874+1G>A | ENSP00000417960.1:n.1874+1G>A | |
| NM_181426.1:c.1874+1G>A | NP_852091.1:n.1874+1G>A | |
| NM_181426.2:c.1874+1G>A MANE Select | NP_852091.1:n.1874+1G>A |