Linked Data
gnomAD v4:
22-27750812-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.27750812G>A , CM000684.2:g.27750812G>A | GRCh38 |
| NC_000022.10:g.28146800G>A , CM000684.1:g.28146800G>A | GRCh37 |
| NC_000022.9:g.26476800G>A | NCBI36 |
| NG_023258.1:g.55687C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703102.1:n.591C>T | ||
| ENST00000302326.5:c.*103C>T MANE Select | ENSP00000304956.4:n.*103C>T | |
| ENST00000302326.4:c.*103C>T | ENSP00000304956.4:n.*103C>T | |
| ENST00000424656.1:c.419C>T | ||
| ENST00000497225.1:n.422C>T | ||
| NM_002430.2:c.*103C>T | NP_002421.3:n.*103C>T | |
| NM_002430.3:c.*103C>T MANE Select | NP_002421.3:n.*103C>T |