Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.27750747G>C , CM000684.2:g.27750747G>C | GRCh38 |
| NC_000022.10:g.28146735G>C , CM000684.1:g.28146735G>C | GRCh37 |
| NC_000022.9:g.26476735G>C | NCBI36 |
| NG_023258.1:g.55752C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703102.1:n.656C>G | ||
| ENST00000302326.5:c.*168C>G MANE Select | ENSP00000304956.4:n.*168C>G | |
| ENST00000302326.4:c.*168C>G | ENSP00000304956.4:n.*168C>G | |
| ENST00000424656.1:c.455+29C>G | ||
| ENST00000497225.1:n.487C>G | ||
| NM_002430.2:c.*168C>G | NP_002421.3:n.*168C>G | |
| NM_002430.3:c.*168C>G MANE Select | NP_002421.3:n.*168C>G |