Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.7015800G= , CM000680.2:g.7015800G= | GRCh38 |
| NC_000018.9:g.7015799G= , CM000680.1:g.7015799G= | GRCh37 |
| NC_000018.8:g.7005799G= | NCBI36 |
| NG_034251.1:g.107015C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389658.4:c.3048C= MANE Select | ENSP00000374309.3:p.Cys1016= | |
| ENST00000389658.3:c.3048C= | ENSP00000374309.3:p.Cys1016= | |
| ENST00000579014.5:n.4063C= | ||
| NM_005559.3:c.3048C= | NP_005550.2:p.Cys1016= | |
| XM_011525655.1:c.3048C= | XP_011523957.1:p.Cys1016= | |
| XM_011525656.1:c.1476C= | XP_011523958.1:p.Cys492= | |
| XM_011525657.1:c.3048C= | XP_011523959.1:p.Cys1016= | |
| XM_011525655.2:c.3048C= | XP_011523957.1:p.Cys1016= | |
| XM_011525656.2:c.1476C= | XP_011523958.1:p.Cys492= | |
| NM_005559.4:c.3048C= MANE Select | NP_005550.2:p.Cys1016= |