Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44380082G= , CM000679.2:g.44380082G= | GRCh38 |
| NC_000017.10:g.42457450G= , CM000679.1:g.42457450G= | GRCh37 |
| NC_000017.9:g.39812976G= | NCBI36 |
| NG_008331.1:g.14424C= , LRG_479:g.14424C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000419.5:c.1672C= MANE Select | NP_000410.2:p.Gln558= |
| ENST00000262407.6:c.1672C= MANE Select | ENSP00000262407.5:p.Gln558= |
| NM_000419.3:c.1672C= , LRG_479t1:c.1672C= | NP_000410.2:p.Gln558= |
| NM_000419.4:c.1672C= | NP_000410.2:p.Gln558= |
| ENST00000262407.5:c.1672C= | ENSP00000262407.5:p.Gln558= |
| ENST00000592226.5:n.1145C= | |
| ENST00000592462.5:n.467C= | |
| ENST00000648408.1:c.1103C= | |
| XM_011524749.1:c.1672C= | XP_011523051.1:p.Gln558= |
| XM_011524750.1:c.1672C= | XP_011523052.1:p.Gln558= |