Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.7015724G= , CM000680.2:g.7015724G= | GRCh38 |
| NC_000018.9:g.7015723G= , CM000680.1:g.7015723G= | GRCh37 |
| NC_000018.8:g.7005723G= | NCBI36 |
| NG_034251.1:g.107091C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005559.4:c.3124C= MANE Select | NP_005550.2:p.Gln1042= |
| ENST00000389658.4:c.3124C= MANE Select | ENSP00000374309.3:p.Gln1042= |
| NM_005559.3:c.3124C= | NP_005550.2:p.Gln1042= |
| ENST00000389658.3:c.3124C= | ENSP00000374309.3:p.Gln1042= |
| ENST00000579014.5:n.4139C= | |
| XM_011525655.1:c.3124C= | XP_011523957.1:p.Gln1042= |
| XM_011525655.2:c.3124C= | XP_011523957.1:p.Gln1042= |
| XM_011525656.1:c.1552C= | XP_011523958.1:p.Gln518= |
| XM_011525656.2:c.1552C= | XP_011523958.1:p.Gln518= |
| XM_011525657.1:c.3124C= | XP_011523959.1:p.Gln1042= |