Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169514326C>T , CM000663.2:g.169514326C>T | GRCh38 |
| NC_000001.10:g.169483564C>T , CM000663.1:g.169483564C>T | GRCh37 |
| NC_000001.9:g.167750188C>T | NCBI36 |
| NG_011806.1:g.77206G>A , LRG_553:g.77206G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367797.9:c.6662G>A MANE Select | ENSP00000356771.3:p.Cys2221Tyr | |
| ENST00000367796.3:c.6677G>A | ENSP00000356770.3:p.Cys2226Tyr | |
| ENST00000367797.7:c.6662G>A | ENSP00000356771.3:p.Cys2221Tyr | |
| ENST00000495481.1:n.436G>A | ||
| NM_000130.4:c.6662G>A , LRG_553t1:c.6662G>A | NP_000121.2:p.Cys2221Tyr | |
| XM_017000660.2:c.6251G>A | XP_016856149.1:p.Cys2084Tyr | |
| NM_000130.5:c.6662G>A MANE Select | NP_000121.2:p.Cys2221Tyr |