Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44372384C= , CM000679.2:g.44372384C= | GRCh38 |
| NC_000017.10:g.42449752C= , CM000679.1:g.42449752C= | GRCh37 |
| NC_000017.9:g.39805278C= | NCBI36 |
| NG_008331.1:g.22122G= , LRG_479:g.22122G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262407.6:c.3100G= MANE Select | ENSP00000262407.5:p.Asp1034= | |
| ENST00000648408.1:c.2414G= | ||
| ENST00000262407.5:c.3100G= | ENSP00000262407.5:p.Asp1034= | |
| ENST00000587295.5:c.293G= | ||
| ENST00000588098.1:c.77G= | ||
| NM_000419.3:c.3100G= , LRG_479t1:c.3100G= | NP_000410.2:p.Asp1034= | |
| XM_011524749.1:c.2998G= | XP_011523051.1:p.Asp1000= | |
| XM_011524750.1:c.2983G= | XP_011523052.1:p.Asp995= | |
| NM_000419.4:c.3100G= | NP_000410.2:p.Asp1034= | |
| NM_000419.5:c.3100G= MANE Select | NP_000410.2:p.Asp1034= |