Linked Data
gnomAD v4:
22-27750487-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.27750487G>C , CM000684.2:g.27750487G>C | GRCh38 |
| NC_000022.10:g.28146475G>C , CM000684.1:g.28146475G>C | GRCh37 |
| NC_000022.9:g.26476475G>C | NCBI36 |
| NG_023258.1:g.56012C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703102.1:n.916C>G | ||
| ENST00000302326.5:c.*428C>G MANE Select | ENSP00000304956.4:n.*428C>G | |
| ENST00000302326.4:c.*428C>G | ENSP00000304956.4:n.*428C>G | |
| ENST00000424656.1:c.456-259C>G | ||
| NM_002430.2:c.*428C>G | NP_002421.3:n.*428C>G | |
| NM_002430.3:c.*428C>G MANE Select | NP_002421.3:n.*428C>G |