Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8072941C>G , CM000679.2:g.8072941C>G | GRCh38 |
| NC_000017.10:g.7976259C>G , CM000679.1:g.7976259C>G | GRCh37 |
| NC_000017.9:g.7916984C>G | NCBI36 |
| NG_007099.1:g.19763G>C | |
| NG_007099.2:g.19776G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001139.3:c.1936G>C MANE Select | NP_001130.1:p.Gly646Arg |
| ENST00000647874.1:c.1936G>C MANE Select | ENSP00000497784.1:p.Gly646Arg |
| NM_001139.2:c.1936G>C | NP_001130.1:p.Gly646Arg |
| ENST00000319144.4:c.1936G>C | ENSP00000315167.4:p.Gly646Arg |
| ENST00000649809.1:c.1000G>C | ENSP00000496845.1:p.Gly334Arg |
| ENST00000650441.1:n.359G>C |