Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44372392A= , CM000679.2:g.44372392A= | GRCh38 |
| NC_000017.10:g.42449760A= , CM000679.1:g.42449760A= | GRCh37 |
| NC_000017.9:g.39805286A= | NCBI36 |
| NG_008331.1:g.22114T= , LRG_479:g.22114T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262407.6:c.3092T= MANE Select | ENSP00000262407.5:p.Leu1031= | |
| ENST00000648408.1:c.2406T= | ||
| ENST00000262407.5:c.3092T= | ENSP00000262407.5:p.Leu1031= | |
| ENST00000587295.5:c.285T= | ||
| ENST00000588098.1:c.69T= | ||
| NM_000419.3:c.3092T= , LRG_479t1:c.3092T= | NP_000410.2:p.Leu1031= | |
| XM_011524749.1:c.2990T= | XP_011523051.1:p.Leu997= | |
| XM_011524750.1:c.2975T= | XP_011523052.1:p.Leu992= | |
| NM_000419.4:c.3092T= | NP_000410.2:p.Leu1031= | |
| NM_000419.5:c.3092T= MANE Select | NP_000410.2:p.Leu1031= |