Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57763749T>A , CM000674.2:g.57763749T>A | GRCh38 |
| NC_000012.11:g.58157532T>A , CM000674.1:g.58157532T>A | GRCh37 |
| NC_000012.10:g.56443799T>A | NCBI36 |
| NG_007076.1:g.8445A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000713544.1:c.1356A>T | ENSP00000518840.1:p.Pro452= | |
| ENST00000713545.1:c.*280A>T | ENSP00000518841.1:n.*280A>T | |
| ENST00000228606.9:c.1275A>T MANE Select | ENSP00000228606.4:p.Pro425= | |
| ENST00000228606.8:c.1275A>T | ENSP00000228606.4:p.Pro425= | |
| ENST00000547344.5:n.1414A>T | ||
| NM_000785.3:c.1275A>T | NP_000776.1:p.Pro425= | |
| NM_000785.4:c.1275A>T MANE Select | NP_000776.1:p.Pro425= |