Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.50193003A>G , CM000685.2:g.50193003A>G | GRCh38 |
| NC_000023.10:g.49957654A>G , CM000685.1:g.49957654A>G | GRCh37 |
| NC_000023.9:g.49844394A>G | NCBI36 |
| NG_012552.1:g.13011T>C | |
| NG_012552.2:g.13011T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358526.7:c.1710T>C MANE Select | ENSP00000351327.2:p.Cys570= | |
| ENST00000358526.6:c.1710T>C | ENSP00000351327.2:p.Cys570= | |
| ENST00000376064.7:c.1683T>C | ENSP00000365232.3:p.Cys561= | |
| ENST00000448865.5:c.561T>C | ENSP00000402403.1:p.Cys187= | |
| ENST00000481402.5:n.1822T>C | ||
| NM_003886.2:c.1710T>C | NP_003877.2:p.Cys570= | |
| NM_139289.1:c.1683T>C | NP_647450.1:p.Cys561= | |
| NM_003886.3:c.1710T>C MANE Select | NP_003877.2:p.Cys570= | |
| NM_139289.2:c.1683T>C | NP_647450.1:p.Cys561= |