Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232539794T= , CM000664.2:g.232539794T= | GRCh38 |
| NC_000002.11:g.233404504T= , CM000664.1:g.233404504T= | GRCh37 |
| NC_000002.10:g.233112748T= | NCBI36 |
| NG_012954.1:g.5068T= | |
| NG_012954.2:g.5103T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651502.1:c.47T= MANE Select | ENSP00000498757.1:p.Val16= | |
| ENST00000389492.3:c.47T= | ENSP00000374143.3:p.Val16= | |
| ENST00000389494.7:c.47T= | ENSP00000374145.3:p.Val16= | |
| ENST00000485094.1:n.68T= | ||
| NM_005199.4:c.47T= | NP_005190.4:p.Val16= | |
| NM_005199.5:c.47T= MANE Select | NP_005190.4:p.Val16= |