Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.50193017A>G , CM000685.2:g.50193017A>G | GRCh38 |
| NC_000023.10:g.49957668A>G , CM000685.1:g.49957668A>G | GRCh37 |
| NC_000023.9:g.49844408A>G | NCBI36 |
| NG_012552.1:g.12997T>C | |
| NG_012552.2:g.12997T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358526.7:c.1696T>C MANE Select | ENSP00000351327.2:p.Cys566Arg | |
| ENST00000358526.6:c.1696T>C | ENSP00000351327.2:p.Cys566Arg | |
| ENST00000376064.7:c.1669T>C | ENSP00000365232.3:p.Cys557Arg | |
| ENST00000448865.5:c.547T>C | ENSP00000402403.1:p.Cys183Arg | |
| ENST00000481402.5:n.1808T>C | ||
| NM_003886.2:c.1696T>C | NP_003877.2:p.Cys566Arg | |
| NM_139289.1:c.1669T>C | NP_647450.1:p.Cys557Arg | |
| NM_003886.3:c.1696T>C MANE Select | NP_003877.2:p.Cys566Arg | |
| NM_139289.2:c.1669T>C | NP_647450.1:p.Cys557Arg |