Linked Data
ClinVar Variation Id:
2931027
ClinVar RCV Id:
RCV003782289
dbSNP Id:
rs1212446052
gnomAD v4:
22-18078478-C-G
MyVariant Identifiers:
chr22:g.18561244C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.18078478C>G , CM000684.2:g.18078478C>G | GRCh38 |
| NC_000022.10:g.18561244C>G , CM000684.1:g.18561244C>G | GRCh37 |
| NC_000022.9:g.16941244C>G | NCBI36 |
| NG_008339.1:g.5559C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399744.8:c.102C>G MANE Select | ENSP00000382648.4:p.Ala34= | |
| ENST00000474897.6:c.102C>G | ENSP00000434235.2:p.Ala34= | |
| ENST00000329627.11:c.102C>G | ENSP00000331106.5:p.Ala34= | |
| ENST00000399744.7:c.102C>G | ENSP00000382648.3:p.Ala34= | |
| ENST00000428061.2:c.102C>G | ENSP00000412441.2:p.Ala34= | |
| ENST00000474897.5:c.102C>G | ENSP00000434235.1:p.Ala34= | |
| ENST00000610387.4:c.102C>G | ENSP00000482091.1:p.Ala34= | |
| NM_001127649.2:c.102C>G | NP_001121121.1:p.Ala34= | |
| NM_001199319.1:c.102C>G | NP_001186248.1:p.Ala34= | |
| NM_017929.5:c.102C>G | NP_060399.1:p.Ala34= | |
| NM_001127649.3:c.102C>G MANE Select | NP_001121121.1:p.Ala34= | |
| NM_001199319.2:c.102C>G | NP_001186248.1:p.Ala34= | |
| NM_017929.6:c.102C>G | NP_060399.1:p.Ala34= |