Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17028730C= , CM000663.2:g.17028730C= | GRCh38 |
| NC_000001.10:g.17355225C= , CM000663.1:g.17355225C= | GRCh37 |
| NC_000001.9:g.17227812C= | NCBI36 |
| NG_012340.1:g.30441G= , LRG_316:g.30441G= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000463045.3:c.122G= | ENSP00000481376.2:p.Cys41= | |
| ENST00000491274.6:c.251G= | ENSP00000480482.2:p.Cys84= | |
| ENST00000375499.8:c.293G= MANE Select | ENSP00000364649.3:p.Cys98= | |
| ENST00000375499.7:c.293G= | ENSP00000364649.3:p.Cys98= | |
| ENST00000463045.2:c.122G= | ENSP00000481376.1:p.Cys41= | |
| ENST00000475506.1:n.210G= | ||
| ENST00000485515.5:n.281G= | ||
| ENST00000491274.5:c.251G= | ENSP00000480482.1:p.Cys84= | |
| NM_003000.2:c.293G= , LRG_316t1:c.293G= | NP_002991.2:p.Cys98= | |
| NM_003000.3:c.293G= MANE Select | NP_002991.2:p.Cys98= |