Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17028721C= , CM000663.2:g.17028721C= | GRCh38 |
| NC_000001.10:g.17355216C= , CM000663.1:g.17355216C= | GRCh37 |
| NC_000001.9:g.17227803C= | NCBI36 |
| NG_012340.1:g.30450G= , LRG_316:g.30450G= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000463045.3:c.131G= | ENSP00000481376.2:p.Cys44= | |
| ENST00000491274.6:c.260G= | ENSP00000480482.2:p.Cys87= | |
| ENST00000375499.8:c.302G= MANE Select | ENSP00000364649.3:p.Cys101= | |
| ENST00000375499.7:c.302G= | ENSP00000364649.3:p.Cys101= | |
| ENST00000463045.2:c.131G= | ENSP00000481376.1:p.Cys44= | |
| ENST00000475506.1:n.219G= | ||
| ENST00000485515.5:n.290G= | ||
| ENST00000491274.5:c.260G= | ENSP00000480482.1:p.Cys87= | |
| NM_003000.2:c.302G= , LRG_316t1:c.302G= | NP_002991.2:p.Cys101= | |
| NM_003000.3:c.302G= MANE Select | NP_002991.2:p.Cys101= |