Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.161700233G>A , CM000667.2:g.161700233G>A | GRCh38 |
| NC_000005.9:g.161127239G>A , CM000667.1:g.161127239G>A | GRCh37 |
| NC_000005.8:g.161059817G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274545.10:c.1087-1265G>A MANE Select | ENSP00000274545.5:n.1087-1265G>A | |
| ENST00000274545.9:c.1087-1265G>A | ENSP00000274545.5:n.1087-1265G>A | |
| ENST00000521520.1:n.1080-1265G>A | ||
| ENST00000523217.5:c.1057-1265G>A | ENSP00000430527.1:n.1057-1265G>A | |
| NM_000811.2:c.1087-1265G>A | NP_000802.2:n.1087-1265G>A | |
| NM_000811.3:c.1087-1265G>A MANE Select | NP_000802.2:n.1087-1265G>A |