Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.100539613T>C , CM000663.2:g.100539613T>C | GRCh38 |
| NC_000001.10:g.101005169T>C , CM000663.1:g.101005169T>C | GRCh37 |
| NC_000001.9:g.100777757T>C | NCBI36 |
| NG_053134.1:g.6442T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000315033.5:c.647T>C MANE Select | ENSP00000314223.4:p.Val216Ala | |
| ENST00000315033.4:c.647T>C | ENSP00000314223.4:p.Val216Ala | |
| NM_022049.2:c.647T>C | NP_071332.2:p.Val216Ala | |
| NM_022049.3:c.647T>C MANE Select | NP_071332.2:p.Val216Ala |