Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229299018G>A , CM000663.2:g.229299018G>A | GRCh38 |
| NC_000001.10:g.229434765G>A , CM000663.1:g.229434765G>A | GRCh37 |
| NC_000001.9:g.227501388G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366690.5:c.487G>A MANE Select | ENSP00000355651.4:p.Val163Ile | |
| ENST00000366690.4:c.487G>A | ENSP00000355651.4:p.Val163Ile | |
| ENST00000473894.1:n.437G>A | ||
| ENST00000618010.4:c.172G>A | ENSP00000482077.1:p.Val58Ile | |
| NM_001271998.1:c.172G>A | NP_001258927.1:p.Val58Ile | |
| NM_004578.3:c.487G>A | NP_004569.2:p.Val163Ile | |
| NR_073545.1:n.727G>A | ||
| NM_004578.4:c.487G>A MANE Select | NP_004569.2:p.Val163Ile | |
| NM_001271998.2:c.172G>A | NP_001258927.1:p.Val58Ile | |
| NR_073545.2:n.678G>A |