Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.46690151G>A , CM000684.2:g.46690151G>A | GRCh38 |
| NC_000022.10:g.47086048G>A , CM000684.1:g.47086048G>A | GRCh37 |
| NC_000022.9:g.45464712G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_022766.6:c.1382C>T MANE Select | NP_073603.2:p.Thr461Met |
| ENST00000216264.13:c.1382C>T MANE Select | ENSP00000216264.8:p.Thr461Met |
| NM_022766.5:c.1382C>T | NP_073603.2:p.Thr461Met |
| ENST00000216264.12:c.1382C>T | ENSP00000216264.8:p.Thr461Met |
| ENST00000443629.5:c.*760C>T | ENSP00000400859.1:n.*760C>T |
| ENST00000471929.1:n.471C>T | |
| XM_011530315.1:c.1313C>T | XP_011528617.1:p.Thr438Met |
| XM_017028909.1:c.1271C>T | XP_016884398.1:p.Thr424Met |