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