Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40165157A>C , CM000677.2:g.40165157A>C | GRCh38 |
| NC_000015.9:g.40457358A>C , CM000677.1:g.40457358A>C | GRCh37 |
| NC_000015.8:g.38244650A>C | NCBI36 |
| NG_016338.1:g.9149A>C , LRG_489:g.9149A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001211.6:c.140A>C MANE Select | NP_001202.5:p.Gln47Pro |
| ENST00000287598.11:c.140A>C MANE Select | ENSP00000287598.7:p.Gln47Pro |
| NM_001211.5:c.140A>C , LRG_489t1:c.140A>C | NP_001202.4:p.Gln47Pro |
| ENST00000287598.10:c.140A>C | ENSP00000287598.6:p.Gln47Pro |
| ENST00000412359.7:c.140A>C | ENSP00000398470.3:p.Gln47Pro |
| ENST00000558715.5:c.140A>C | ENSP00000453861.1:p.Gln47Pro |
| ENST00000559414.5:n.318A>C | |
| ENST00000560120.5:n.233+3902A>C |