Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.27750668A>G , CM000684.2:g.27750668A>G | GRCh38 |
| NC_000022.10:g.28146656A>G , CM000684.1:g.28146656A>G | GRCh37 |
| NC_000022.9:g.26476656A>G | NCBI36 |
| NG_023258.1:g.55831T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703102.1:n.735T>C | ||
| ENST00000302326.5:c.*247T>C MANE Select | ENSP00000304956.4:n.*247T>C | |
| ENST00000302326.4:c.*247T>C | ENSP00000304956.4:n.*247T>C | |
| ENST00000424656.1:c.455+108T>C | ||
| NM_002430.2:c.*247T>C | NP_002421.3:n.*247T>C | |
| NM_002430.3:c.*247T>C MANE Select | NP_002421.3:n.*247T>C |