Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20994116G>T , CM000684.2:g.20994116G>T | GRCh38 |
| NC_000022.10:g.21348405G>T , CM000684.1:g.21348405G>T | GRCh37 |
| NC_000022.9:g.19678405G>T | NCBI36 |
| NG_034193.1:g.16848G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006767.4:c.1462G>T MANE Select | NP_006758.2:p.Glu488Ter |
| ENST00000646124.2:c.1462G>T MANE Select | ENSP00000496779.1:p.Glu488Ter |
| NM_006767.3:c.1462G>T | NP_006758.2:p.Glu488Ter |
| ENST00000215739.12:c.1462G>T | ENSP00000215739.8:p.Glu488Ter |
| ENST00000479606.5:n.1608G>T | |
| ENST00000492480.1:n.511G>T | |
| ENST00000495142.6:n.807G>T | |
| ENST00000642151.1:c.1293G>T | |
| ENST00000643578.1:n.1484G>T | |
| ENST00000643710.1:n.323G>T | |
| ENST00000646506.1:n.1041G>T | |
| ENST00000700578.1:c.1462G>T | ENSP00000515073.1:p.Glu488Ter |