Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57763702T>G , CM000674.2:g.57763702T>G | GRCh38 |
| NC_000012.11:g.58157485T>G , CM000674.1:g.58157485T>G | GRCh37 |
| NC_000012.10:g.56443752T>G | NCBI36 |
| NG_007076.1:g.8492A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000713544.1:c.1403A>C | ENSP00000518840.1:p.His468Pro | |
| ENST00000713545.1:c.*327A>C | ENSP00000518841.1:n.*327A>C | |
| ENST00000228606.9:c.1322A>C MANE Select | ENSP00000228606.4:p.His441Pro | |
| ENST00000228606.8:c.1322A>C | ENSP00000228606.4:p.His441Pro | |
| ENST00000547344.5:n.1461A>C | ||
| NM_000785.3:c.1322A>C | NP_000776.1:p.His441Pro | |
| NM_000785.4:c.1322A>C MANE Select | NP_000776.1:p.His441Pro |