Linked Data
ClinVar Variation Id:
1167537
dbSNP Id:
rs2236141
gnomAD v2:
22-29137870-C-T
gnomAD v3:
22-28741882-C-T
gnomAD v4:
22-28741882-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.28741882C>T , CM000684.2:g.28741882C>T | GRCh38 |
| NC_000022.10:g.29137870C>T , CM000684.1:g.29137870C>T | GRCh37 |
| NC_000022.9:g.27467870C>T | NCBI36 |
| NG_008150.1:g.4953G>A | |
| NG_008150.2:g.4985G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000416671.5:c.-120G>A | ENSP00000402225.1:n.-120G>A | |
| XM_011529845.1:c.-458G>A | XP_011528147.1:n.-458G>A |