Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49016691C>T , CM000681.2:g.49016691C>T | GRCh38 |
| NC_000019.9:g.49519948C>T , CM000681.1:g.49519948C>T | GRCh37 |
| NC_000019.8:g.54211760C>T | NCBI36 |
| NG_011464.1:g.5400G>A | |
| NG_033041.1:g.27793C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000894.3:c.39G>A MANE Select | NP_000885.1:p.Leu13= |
| ENST00000649238.3:c.39G>A MANE Select | ENSP00000497294.2:p.Leu13= |
| NM_000894.2:c.39G>A | NP_000885.1:p.Leu13= |
| ENST00000221421.6:c.39G>A | ENSP00000221421.1:p.Leu13= |
| ENST00000391869.4:c.33G>A | ENSP00000375742.4:p.Leu11= |
| ENST00000649284.1:n.130G>A | |
| XM_011526975.1:c.87G>A | XP_011525277.1:p.Leu29= |