Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.102501347C= , CM000666.2:g.102501347C= | GRCh38 |
| NC_000004.11:g.103422504C= , CM000666.1:g.103422504C= | GRCh37 |
| NC_000004.10:g.103641536C= | NCBI36 |
| NG_050628.1:g.5019C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001165412.1:c.-449C= | NP_001158884.1:n.-449C= |
| NM_003998.3:c.-449C= | NP_003989.2:n.-449C= |
| NR_136202.1:n.48+1092G= | |
| ENST00000226574.8:c.-449C= | ENSP00000226574.4:n.-449C= |
| ENST00000394820.8:c.-449C= | ENSP00000378297.4:n.-449C= |
| ENST00000507079.6:c.-495C= | ENSP00000426147.2:n.-495C= |
| XM_011532467.1:c.545G= | XP_011530769.1:p.Cys182= |
| XM_024454067.1:c.-495C= | XP_024309835.1:n.-495C= |
| XM_024454069.1:c.-495C= | XP_024309837.1:n.-495C= |