Linked Data
ClinVar Variation Id:
338588
dbSNP Id:
rs886056723
gnomAD v2:
20-45338354-A-G
gnomAD v3:
20-46709715-A-G
gnomAD v4:
20-46709715-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46709715A>G , CM000682.2:g.46709715A>G | GRCh38 |
| NC_000020.10:g.45338354A>G , CM000682.1:g.45338354A>G | GRCh37 |
| NC_000020.9:g.44771761A>G | NCBI36 |
| NG_016284.1:g.5076A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359271.4:c.-22A>G MANE Select | ENSP00000352216.2:n.-22A>G | |
| ENST00000359271.3:c.-22A>G | ENSP00000352216.2:n.-22A>G | |
| ENST00000486000.2:c.-22A>G | ENSP00000478679.1:n.-22A>G | |
| NM_030777.3:c.-22A>G | NP_110404.1:n.-22A>G | |
| XM_011529060.1:c.67+1162A>G | XP_011527362.1:n.67+1162A>G | |
| XM_011529062.1:c.67+1162A>G | XP_011527364.1:n.67+1162A>G | |
| XM_011529063.1:c.67+1162A>G | XP_011527365.1:n.67+1162A>G | |
| XM_011529064.1:c.67+1162A>G | XP_011527366.1:n.67+1162A>G | |
| XM_011529065.1:c.67+1162A>G | XP_011527367.1:n.67+1162A>G | |
| XR_936641.1:n.203+1162A>G | ||
| XM_011529060.2:c.67+1162A>G | XP_011527362.1:n.67+1162A>G | |
| XM_011529062.2:c.67+1162A>G | XP_011527364.1:n.67+1162A>G | |
| XM_011529063.2:c.67+1162A>G | XP_011527365.1:n.67+1162A>G | |
| XM_011529064.2:c.67+1162A>G | XP_011527366.1:n.67+1162A>G | |
| XM_011529065.2:c.67+1162A>G | XP_011527367.1:n.67+1162A>G | |
| XM_017028087.2:c.-22A>G | XP_016883576.1:n.-22A>G | |
| XR_936641.2:n.190+1162A>G | ||
| NM_030777.4:c.-22A>G MANE Select | NP_110404.1:n.-22A>G |