Linked Data
ClinVar Variation Id:
1632705
ClinVar RCV Id:
RCV002119222
dbSNP Id:
rs527626972
ExAC:
22:29876332 G / A
gnomAD v2:
22-29876332-G-A
gnomAD v3:
22-29480343-G-A
gnomAD v4:
22-29480343-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.29480343G>A , CM000684.2:g.29480343G>A | GRCh38 |
| NC_000022.10:g.29876332G>A , CM000684.1:g.29876332G>A | GRCh37 |
| NC_000022.9:g.28206332G>A | NCBI36 |
| NG_008404.1:g.5152G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310624.7:c.81G>A MANE Select | ENSP00000311997.6:p.Ala27= | |
| ENST00000310624.6:c.81G>A | ENSP00000311997.6:p.Ala27= | |
| NM_021076.3:c.81G>A | NP_066554.2:p.Ala27= | |
| XM_011530200.1:c.81G>A | XP_011528502.1:p.Ala27= | |
| XM_011530200.2:c.81G>A | XP_011528502.1:p.Ala27= | |
| NM_021076.4:c.81G>A MANE Select | NP_066554.2:p.Ala27= |