Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232541515C= , CM000664.2:g.232541515C= | GRCh38 |
| NC_000002.11:g.233406225C= , CM000664.1:g.233406225C= | GRCh37 |
| NC_000002.10:g.233114469C= | NCBI36 |
| NG_012954.1:g.6789C= | |
| NG_012954.2:g.6824C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651502.1:c.492C= MANE Select | ENSP00000498757.1:p.Cys164= | |
| ENST00000389492.3:c.350+804C= | ENSP00000374143.3:n.350+804C= | |
| ENST00000389494.7:c.492C= | ENSP00000374145.3:p.Cys164= | |
| ENST00000485094.1:n.513C= | ||
| NM_005199.4:c.492C= | NP_005190.4:p.Cys164= | |
| NM_005199.5:c.492C= MANE Select | NP_005190.4:p.Cys164= |