Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44372407C>A , CM000679.2:g.44372407C>A | GRCh38 |
| NC_000017.10:g.42449775C>A , CM000679.1:g.42449775C>A | GRCh37 |
| NC_000017.9:g.39805301C>A | NCBI36 |
| NG_008331.1:g.22099G>T , LRG_479:g.22099G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262407.6:c.3077G>T MANE Select | ENSP00000262407.5:p.Arg1026Leu | |
| ENST00000648408.1:c.2391G>T | ||
| ENST00000262407.5:c.3077G>T | ENSP00000262407.5:p.Arg1026Leu | |
| ENST00000587295.5:c.270G>T | ||
| ENST00000588098.1:c.54G>T | ||
| NM_000419.3:c.3077G>T , LRG_479t1:c.3077G>T | NP_000410.2:p.Arg1026Leu | |
| XM_011524749.1:c.2975G>T | XP_011523051.1:p.Arg992Leu | |
| XM_011524750.1:c.2960G>T | XP_011523052.1:p.Arg987Leu | |
| NM_000419.4:c.3077G>T | NP_000410.2:p.Arg1026Leu | |
| NM_000419.5:c.3077G>T MANE Select | NP_000410.2:p.Arg1026Leu |