Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.26509164G>A , CM000668.2:g.26509164G>A | GRCh38 |
| NC_000006.11:g.26509392G>A , CM000668.1:g.26509392G>A | GRCh37 |
| NC_000006.10:g.26617371G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684113.1:c.1571G>A MANE Select | ENSP00000507193.1:p.Gly524Glu | |
| ENST00000244513.10:c.1571G>A | ENSP00000244513.6:p.Gly524Glu | |
| ENST00000613186.1:c.1475G>A | ENSP00000484707.1:p.Gly492Glu | |
| NM_001732.2:c.1571G>A | NP_001723.2:p.Gly524Glu | |
| XM_005249340.2:c.1871G>A | XP_005249397.2:p.Gly624Glu | |
| XM_005249340.3:c.1871G>A | XP_005249397.2:p.Gly624Glu | |
| XR_001744057.2:n.2716+12345C>T | ||
| NM_001732.3:c.1571G>A MANE Select | NP_001723.2:p.Gly524Glu |