Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.178988875C>T , CM000667.2:g.178988875C>T | GRCh38 |
| NC_000005.9:g.178415876C>T , CM000667.1:g.178415876C>T | GRCh37 |
| NC_000005.8:g.178348482C>T | NCBI36 |
| NG_008105.1:g.11249G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000843.4:c.1354+60G>A MANE Select | NP_000834.2:n.1354+60G>A |
| ENST00000517717.3:c.1354+60G>A MANE Select | ENSP00000430767.1:n.1354+60G>A |
| NM_000843.3:c.1354+60G>A | NP_000834.2:n.1354+60G>A |
| ENST00000231188.9:c.1354+60G>A | ENSP00000231188.5:n.1354+60G>A |
| ENST00000517717.1:c.1354+60G>A | ENSP00000430767.1:n.1354+60G>A |
| ENST00000518082.1:n.38+60G>A | |
| ENST00000650031.1:c.1354+60G>A | ENSP00000497110.1:n.1354+60G>A |
| XR_941310.1:n.1470-872C>T |