Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7503484G>T , CM000679.2:g.7503484G>T | GRCh38 |
| NC_000017.10:g.7406803G>T , CM000679.1:g.7406803G>T | GRCh37 |
| NC_000017.9:g.7347527G>T | NCBI36 |
| NG_027747.1:g.24106G>T | |
| NG_027747.2:g.24106G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000937.5:c.3028G>T MANE Select | NP_000928.1:p.Val1010Leu |
| NM_000937.4:c.3028G>T | NP_000928.1:p.Val1010Leu |
| ENST00000574158.1:n.84G>T | |
| ENST00000576718.1:n.472G>T | |
| ENST00000617998.4:c.3028G>T | ENSP00000480158.1:p.Val1010Leu |
| ENST00000617998.6:n.3427G>T | |
| ENST00000621442.4:c.3028G>T | ENSP00000483957.1:p.Val1010Leu |
| ENST00000674977.2:c.3028G>T | ENSP00000502190.2:p.Val1010Leu |