Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.27750497G>A , CM000684.2:g.27750497G>A | GRCh38 |
| NC_000022.10:g.28146485G>A , CM000684.1:g.28146485G>A | GRCh37 |
| NC_000022.9:g.26476485G>A | NCBI36 |
| NG_023258.1:g.56002C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703102.1:n.906C>T | ||
| ENST00000302326.5:c.*418C>T MANE Select | ENSP00000304956.4:n.*418C>T | |
| ENST00000302326.4:c.*418C>T | ENSP00000304956.4:n.*418C>T | |
| ENST00000424656.1:c.456-269C>T | ||
| NM_002430.2:c.*418C>T | NP_002421.3:n.*418C>T | |
| NM_002430.3:c.*418C>T MANE Select | NP_002421.3:n.*418C>T |