Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1014092G>T , CM000663.2:g.1014092G>T | GRCh38 |
| NC_000001.10:g.949472G>T , CM000663.1:g.949472G>T | GRCh37 |
| NC_000001.9:g.939335G>T | NCBI36 |
| NG_033033.1:g.5626G>T | |
| NG_033033.2:g.17955G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000624697.4:c.88G>T | ENSP00000485643.1:p.Val30Leu | |
| ENST00000649529.1:c.112G>T MANE Select | ENSP00000496832.1:p.Val38Leu | |
| ENST00000379389.4:c.112G>T | ENSP00000368699.4:p.Val38Leu | |
| ENST00000624652.1:c.88G>T | ENSP00000485313.1:p.Val30Leu | |
| ENST00000624697.3:c.88G>T | ENSP00000485643.1:p.Val30Leu | |
| NM_005101.3:c.112G>T | NP_005092.1:p.Val38Leu | |
| NM_005101.4:c.112G>T MANE Select | NP_005092.1:p.Val38Leu |