Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44372367C>T , CM000679.2:g.44372367C>T | GRCh38 |
| NC_000017.10:g.42449735C>T , CM000679.1:g.42449735C>T | GRCh37 |
| NC_000017.9:g.39805261C>T | NCBI36 |
| NG_008331.1:g.22139G>A , LRG_479:g.22139G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262407.6:c.3117G>A MANE Select | ENSP00000262407.5:p.Glu1039= | |
| ENST00000648408.1:c.2431G>A | ||
| ENST00000262407.5:c.3117G>A | ENSP00000262407.5:p.Glu1039= | |
| ENST00000587295.5:c.310G>A | ||
| ENST00000588098.1:c.94G>A | ||
| NM_000419.3:c.3117G>A , LRG_479t1:c.3117G>A | NP_000410.2:p.Glu1039= | |
| XM_011524749.1:c.3015G>A | XP_011523051.1:p.Glu1005= | |
| XM_011524750.1:c.3000G>A | XP_011523052.1:p.Glu1000= | |
| NM_000419.4:c.3117G>A | NP_000410.2:p.Glu1039= | |
| NM_000419.5:c.3117G>A MANE Select | NP_000410.2:p.Glu1039= |