Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44379794G= , CM000679.2:g.44379794G= | GRCh38 |
| NC_000017.10:g.42457162G= , CM000679.1:g.42457162G= | GRCh37 |
| NC_000017.9:g.39812688G= | NCBI36 |
| NG_008331.1:g.14712C= , LRG_479:g.14712C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262407.6:c.1773C= MANE Select | ENSP00000262407.5:p.Asp591= | |
| ENST00000648408.1:c.1204C= | ||
| ENST00000262407.5:c.1773C= | ENSP00000262407.5:p.Asp591= | |
| ENST00000592462.5:n.568C= | ||
| NM_000419.3:c.1773C= , LRG_479t1:c.1773C= | NP_000410.2:p.Asp591= | |
| XM_011524749.1:c.1773C= | XP_011523051.1:p.Asp591= | |
| XM_011524750.1:c.1773C= | XP_011523052.1:p.Asp591= | |
| NM_000419.4:c.1773C= | NP_000410.2:p.Asp591= | |
| NM_000419.5:c.1773C= MANE Select | NP_000410.2:p.Asp591= |