Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.23509469G>A , CM000667.2:g.23509469G>A | GRCh38 |
| NC_000005.9:g.23509578G>A , CM000667.1:g.23509578G>A | GRCh37 |
| NC_000005.8:g.23545335G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020227.4:c.70-1G>A MANE Select | NP_064612.2:n.70-1G>A |
| ENST00000296682.4:c.70-1G>A MANE Select | ENSP00000296682.4:n.70-1G>A |
| NM_001376900.1:c.70-1G>A | NP_001363829.1:n.70-1G>A |
| NM_020227.2:c.70-1G>A | NP_064612.2:n.70-1G>A |
| NM_020227.3:c.70-1G>A | NP_064612.2:n.70-1G>A |
| ENST00000296682.3:c.70-1G>A | ENSP00000296682.3:n.70-1G>A |
| ENST00000502755.5:c.70-1G>A | ENSP00000425471.1:n.70-1G>A |
| ENST00000502755.6:c.70-1G>A | ENSP00000425471.2:n.70-1G>A |
| ENST00000635252.1:c.17-451G>A | ENSP00000489227.1:n.17-451G>A |