Linked Data
ClinVar Variation Id:
582394
ClinVar RCV Id:
RCV001342433
dbSNP Id:
rs762188226
ExAC:
22:24135815 A / G
gnomAD v2:
22-24135815-A-G
gnomAD v4:
22-23793628-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.23793628A>G , CM000684.2:g.23793628A>G | GRCh38 |
| NC_000022.10:g.24135815A>G , CM000684.1:g.24135815A>G | GRCh37 |
| NC_000022.9:g.22465815A>G | NCBI36 |
| NG_009303.1:g.11666A>G , LRG_520:g.11666A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263121.12:c.302A>G | ENSP00000263121.8:p.Asp101Gly | |
| ENST00000344921.11:c.275A>G | ENSP00000340883.6:p.Asp92Gly | |
| ENST00000407082.4:c.275A>G | ENSP00000385226.4:p.Asp92Gly | |
| ENST00000407422.8:c.275A>G | ENSP00000383984.3:p.Asp92Gly | |
| ENST00000417137.6:c.302A>G | ENSP00000388489.2:p.Asp101Gly | |
| ENST00000491967.2:n.465A>G | ||
| ENST00000643421.1:n.270A>G | ||
| ENST00000644036.2:c.302A>G MANE Select | ENSP00000494049.2:p.Asp101Gly | |
| ENST00000644462.1:c.137A>G | ENSP00000494283.1:p.Asp46Gly | |
| ENST00000644619.1:c.302A>G | ENSP00000494695.1:p.Asp101Gly | |
| ENST00000646421.1:n.2158A>G | ||
| ENST00000646723.1:n.290A>G | ||
| ENST00000646911.1:n.214A>G | ||
| ENST00000647057.1:c.93+6366A>G | ENSP00000494757.1:n.93+6366A>G | |
| ENST00000263121.11:c.302A>G | ENSP00000263121.7:p.Asp101Gly | |
| ENST00000344921.10:c.275A>G | ENSP00000340883.6:p.Asp92Gly | |
| ENST00000407082.3:c.302A>G | ENSP00000385226.3:p.Asp101Gly | |
| ENST00000407422.7:c.275A>G | ENSP00000383984.3:p.Asp92Gly | |
| ENST00000417137.5:c.302A>G | ENSP00000388489.1:p.Asp101Gly | |
| ENST00000491967.1:n.28A>G | ||
| ENST00000634926.1:c.154A>G | ||
| ENST00000635578.1:c.127A>G | ||
| NM_001007468.1:c.275A>G | NP_001007469.1:p.Asp92Gly | |
| NM_003073.3:c.302A>G , LRG_520t1:c.302A>G | NP_003064.2:p.Asp101Gly | |
| XM_011530345.1:c.302A>G | XP_011528647.1:p.Asp101Gly | |
| XM_011530346.1:c.275A>G | XP_011528648.1:p.Asp92Gly | |
| NM_001007468.2:c.275A>G | NP_001007469.1:p.Asp92Gly | |
| NM_001317946.1:c.275A>G | NP_001304875.1:p.Asp92Gly | |
| NM_001362877.1:c.302A>G | NP_001349806.1:p.Asp101Gly | |
| NM_003073.4:c.302A>G | NP_003064.2:p.Asp101Gly | |
| NM_001007468.3:c.275A>G | NP_001007469.1:p.Asp92Gly | |
| NM_001317946.2:c.275A>G | NP_001304875.1:p.Asp92Gly | |
| NM_001362877.2:c.302A>G | NP_001349806.1:p.Asp101Gly | |
| NM_003073.5:c.302A>G MANE Select | NP_003064.2:p.Asp101Gly |