Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1985953G>A , CM000678.2:g.1985953G>A | GRCh38 |
| NC_000016.9:g.2035954G>A , CM000678.1:g.2035954G>A | GRCh37 |
| NC_000016.8:g.1975955G>A | NCBI36 |
| NG_016288.1:g.6805G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567719.2:c.318G>A | ENSP00000455885.1:p.Leu106= | |
| ENST00000248114.7:c.543G>A MANE Select | ENSP00000248114.6:p.Leu181= | |
| ENST00000248114.6:c.543G>A | ENSP00000248114.6:p.Leu181= | |
| ENST00000565658.1:n.700G>A | ||
| ENST00000567719.1:c.318G>A | ENSP00000455885.1:p.Leu106= | |
| ENST00000569451.1:c.*16G>A | ENSP00000456432.1:n.*16G>A | |
| NM_005262.2:c.543G>A | NP_005253.3:p.Leu181= | |
| NM_005262.3:c.543G>A MANE Select | NP_005253.3:p.Leu181= |