Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.23686265A>G , CM000677.2:g.23686265A>G | GRCh38 |
| NC_000015.9:g.23931412A>G , CM000677.1:g.23931412A>G | GRCh37 |
| NC_000015.8:g.21482505A>G | NCBI36 |
| NG_009380.1:g.6039T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649030.2:c.953T>C MANE Select | ENSP00000497916.1:p.Val318Ala | |
| ENST00000331837.5:c.953T>C | ENSP00000332643.4:p.Val318Ala | |
| NM_002487.2:c.953T>C | NP_002478.1:p.Val318Ala | |
| NM_002487.3:c.953T>C MANE Select | NP_002478.1:p.Val318Ala |