Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57763704G>T , CM000674.2:g.57763704G>T | GRCh38 |
| NC_000012.11:g.58157487G>T , CM000674.1:g.58157487G>T | GRCh37 |
| NC_000012.10:g.56443754G>T | NCBI36 |
| NG_007076.1:g.8490C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000713544.1:c.1401C>A | ENSP00000518840.1:p.Pro467= | |
| ENST00000713545.1:c.*325C>A | ENSP00000518841.1:n.*325C>A | |
| ENST00000228606.9:c.1320C>A MANE Select | ENSP00000228606.4:p.Pro440= | |
| ENST00000228606.8:c.1320C>A | ENSP00000228606.4:p.Pro440= | |
| ENST00000547344.5:n.1459C>A | ||
| NM_000785.3:c.1320C>A | NP_000776.1:p.Pro440= | |
| NM_000785.4:c.1320C>A MANE Select | NP_000776.1:p.Pro440= |