Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57763738C>G , CM000674.2:g.57763738C>G | GRCh38 |
| NC_000012.11:g.58157521C>G , CM000674.1:g.58157521C>G | GRCh37 |
| NC_000012.10:g.56443788C>G | NCBI36 |
| NG_007076.1:g.8456G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000785.4:c.1286G>C MANE Select | NP_000776.1:p.Arg429Pro |
| ENST00000228606.9:c.1286G>C MANE Select | ENSP00000228606.4:p.Arg429Pro |
| NM_000785.3:c.1286G>C | NP_000776.1:p.Arg429Pro |
| ENST00000228606.8:c.1286G>C | ENSP00000228606.4:p.Arg429Pro |
| ENST00000547344.5:n.1425G>C | |
| ENST00000713544.1:c.1367G>C | ENSP00000518840.1:p.Arg456Pro |
| ENST00000713545.1:c.*291G>C | ENSP00000518841.1:n.*291G>C |