Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.4912601T>C , CM000674.2:g.4912601T>C | GRCh38 |
| NC_000012.11:g.5021767T>C , CM000674.1:g.5021767T>C | GRCh37 |
| NC_000012.10:g.4892028T>C | NCBI36 |
| NG_011815.1:g.7695T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000217.3:c.1223T>C MANE Select | NP_000208.2:p.Val408Ala |
| ENST00000382545.5:c.1223T>C MANE Select | ENSP00000371985.3:p.Val408Ala |
| NM_000217.2:c.1223T>C | NP_000208.2:p.Val408Ala |
| ENST00000382545.3:c.1223T>C | ENSP00000371985.3:p.Val408Ala |
| ENST00000541095.1:n.105+2129T>C | |
| ENST00000543874.2:n.96+2129T>C | |
| ENST00000543874.3:n.105+2129T>C | |
| ENST00000639306.1:c.1061T>C | ENSP00000492506.1:p.Val354Ala |
| ENST00000639680.1:c.76+335T>C |