Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20992905G>A , CM000684.2:g.20992905G>A | GRCh38 |
| NC_000022.10:g.21347194G>A , CM000684.1:g.21347194G>A | GRCh37 |
| NC_000022.9:g.19677194G>A | NCBI36 |
| NG_034193.1:g.15637G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006767.4:c.1260+1G>A MANE Select | NP_006758.2:n.1260+1G>A |
| ENST00000646124.2:c.1260+1G>A MANE Select | ENSP00000496779.1:n.1260+1G>A |
| NM_006767.3:c.1260+1G>A | NP_006758.2:n.1260+1G>A |
| ENST00000215739.12:c.1260+1G>A | ENSP00000215739.8:n.1260+1G>A |
| ENST00000479606.5:n.1406+1G>A | |
| ENST00000492480.1:n.309+8G>A | |
| ENST00000495142.6:n.605+1G>A | |
| ENST00000642151.1:c.1091+1G>A | |
| ENST00000643578.1:n.1282+1G>A | |
| ENST00000646506.1:n.839+1G>A | |
| ENST00000700578.1:c.1260+1G>A | ENSP00000515073.1:n.1260+1G>A |