Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40471848T>C , CM000677.2:g.40471848T>C | GRCh38 |
| NC_000015.9:g.40764047T>C , CM000677.1:g.40764047T>C | GRCh37 |
| NC_000015.8:g.38551339T>C | NCBI36 |
| NG_017074.1:g.5888T>C , LRG_600:g.5888T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_130468.4:c.635T>C MANE Select | NP_569735.1:p.Val212Ala |
| ENST00000306243.7:c.635T>C MANE Select | ENSP00000307297.6:p.Val212Ala |
| NM_130468.3:c.635T>C , LRG_600t1:c.635T>C | NP_569735.1:p.Val212Ala |
| ENST00000306243.6:c.635T>C | ENSP00000307297.5:p.Val212Ala |
| ENST00000559991.1:c.560T>C | ENSP00000453882.1:p.Val187Ala |