Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1397448G>A , CM000681.2:g.1397448G>A | GRCh38 |
| NC_000019.9:g.1397447G>A , CM000681.1:g.1397447G>A | GRCh37 |
| NC_000019.8:g.1348447G>A | NCBI36 |
| NG_008283.1:g.18565G>A | |
| NG_009785.1:g.9106C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000156.6:c.622C>T MANE Select | NP_000147.1:p.Arg208Cys |
| ENST00000252288.8:c.622C>T MANE Select | ENSP00000252288.1:p.Arg208Cys |
| NM_000156.5:c.622C>T | NP_000147.1:p.Arg208Cys |
| ENST00000252288.6:c.622C>T | ENSP00000252288.1:p.Arg208Cys |
| ENST00000640164.1:n.455C>T | |
| ENST00000640762.1:c.553C>T | ENSP00000492031.1:p.Arg185Cys |