Linked Data
dbSNP Id:
rs753288042
gnomAD v2:
22-28146734-C-T
gnomAD v3:
22-27750746-C-T
gnomAD v4:
22-27750746-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.27750746C>T , CM000684.2:g.27750746C>T | GRCh38 |
| NC_000022.10:g.28146734C>T , CM000684.1:g.28146734C>T | GRCh37 |
| NC_000022.9:g.26476734C>T | NCBI36 |
| NG_023258.1:g.55753G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703102.1:n.657G>A | ||
| ENST00000302326.5:c.*169G>A MANE Select | ENSP00000304956.4:n.*169G>A | |
| ENST00000302326.4:c.*169G>A | ENSP00000304956.4:n.*169G>A | |
| ENST00000424656.1:c.455+30G>A | ||
| ENST00000497225.1:n.488G>A | ||
| NM_002430.2:c.*169G>A | NP_002421.3:n.*169G>A | |
| NM_002430.3:c.*169G>A MANE Select | NP_002421.3:n.*169G>A |