Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.39243580C>G , CM000681.2:g.39243580C>G | GRCh38 |
| NC_000019.9:g.39734220C>G , CM000681.1:g.39734220C>G | GRCh37 |
| NC_000019.8:g.44426060C>G | NCBI36 |
| NG_042193.1:g.6392G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_172139.4:c.*52G>C MANE Select | NP_742151.2:n.*52G>C |
| ENST00000413851.3:c.*52G>C MANE Select | ENSP00000409000.2:n.*52G>C |
| NM_001346937.2:c.*52G>C | NP_001333866.1:n.*52G>C |
| ENST00000613087.4:c.*52G>C | ENSP00000481633.1:n.*52G>C |
| ENST00000613087.5:c.*52G>C | ENSP00000481633.1:n.*52G>C |