Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.27750415G>T , CM000684.2:g.27750415G>T | GRCh38 |
| NC_000022.10:g.28146403G>T , CM000684.1:g.28146403G>T | GRCh37 |
| NC_000022.9:g.26476403G>T | NCBI36 |
| NG_023258.1:g.56084C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703102.1:n.988C>A | ||
| ENST00000302326.5:c.*500C>A MANE Select | ENSP00000304956.4:n.*500C>A | |
| ENST00000302326.4:c.*500C>A | ENSP00000304956.4:n.*500C>A | |
| ENST00000424656.1:c.456-187C>A | ||
| NM_002430.2:c.*500C>A | NP_002421.3:n.*500C>A | |
| NM_002430.3:c.*500C>A MANE Select | NP_002421.3:n.*500C>A |