Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.190404893T>C , CM000665.2:g.190404893T>C | GRCh38 |
| NC_000003.11:g.190122682T>C , CM000665.1:g.190122682T>C | GRCh37 |
| NC_000003.10:g.191605376T>C | NCBI36 |
| NG_008149.1:g.21842T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264734.3:c.349T>C MANE Select | ENSP00000264734.3:p.Cys117Arg | |
| ENST00000456423.2:c.115-5010T>C | ENSP00000414136.2:n.115-5010T>C | |
| ENST00000264734.2:c.559T>C | ENSP00000264734.2:p.Cys187Arg | |
| ENST00000456423.1:c.325-5010T>C | ENSP00000414136.1:n.325-5010T>C | |
| ENST00000468220.1:n.541T>C | ||
| NM_006580.3:c.559T>C | NP_006571.1:p.Cys187Arg | |
| NM_001378492.1:c.349T>C | NP_001365421.1:p.Cys117Arg | |
| NM_001378493.1:c.349T>C | NP_001365422.1:p.Cys117Arg | |
| NM_006580.4:c.349T>C MANE Select | NP_006571.2:p.Cys117Arg |