Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57764755G>T , CM000674.2:g.57764755G>T | GRCh38 |
| NC_000012.11:g.58158538G>T , CM000674.1:g.58158538G>T | GRCh37 |
| NC_000012.10:g.56444805G>T | NCBI36 |
| NG_007076.1:g.7439C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000785.4:c.962C>A MANE Select | NP_000776.1:p.Thr321Lys |
| ENST00000228606.9:c.962C>A MANE Select | ENSP00000228606.4:p.Thr321Lys |
| NM_000785.3:c.962C>A | NP_000776.1:p.Thr321Lys |
| ENST00000228606.8:c.962C>A | ENSP00000228606.4:p.Thr321Lys |
| ENST00000546567.5:c.257C>A | ENSP00000449472.1:p.Thr86Lys |
| ENST00000547344.5:n.1101C>A | |
| ENST00000547451.1:n.762C>A | |
| ENST00000713544.1:c.1043C>A | ENSP00000518840.1:p.Thr348Lys |
| ENST00000713545.1:c.1020C>A | ENSP00000518841.1:p.His340Gln |