Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.27750765C>A , CM000684.2:g.27750765C>A | GRCh38 |
| NC_000022.10:g.28146753C>A , CM000684.1:g.28146753C>A | GRCh37 |
| NC_000022.9:g.26476753C>A | NCBI36 |
| NG_023258.1:g.55734G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703102.1:n.638G>T | ||
| ENST00000302326.5:c.*150G>T MANE Select | ENSP00000304956.4:n.*150G>T | |
| ENST00000302326.4:c.*150G>T | ENSP00000304956.4:n.*150G>T | |
| ENST00000424656.1:c.455+11G>T | ||
| ENST00000497225.1:n.469G>T | ||
| NM_002430.2:c.*150G>T | NP_002421.3:n.*150G>T | |
| NM_002430.3:c.*150G>T MANE Select | NP_002421.3:n.*150G>T |