Linked Data
ClinVar Variation Id:
198515
dbSNP Id:
rs147706488
ExAC:
1:10684484 C / G
gnomAD v2:
1-10684484-C-G
gnomAD v3:
1-10624427-C-G
gnomAD v4:
1-10624427-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.10624427C>G , CM000663.2:g.10624427C>G | GRCh38 |
| NC_000001.10:g.10684484C>G , CM000663.1:g.10684484C>G | GRCh37 |
| NC_000001.9:g.10607071C>G | NCBI36 |
| NG_008340.1:g.154482C>G | |
| NG_008340.2:g.154482C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356607.9:c.575C>G MANE Select | ENSP00000349016.4:p.Ala192Gly | |
| ENST00000356607.8:c.575C>G | ENSP00000349016.4:p.Ala192Gly | |
| NM_004565.2:c.575C>G | NP_004556.1:p.Ala192Gly | |
| XM_005263470.3:c.383C>G | XP_005263527.1:p.Ala128Gly | |
| XM_011541577.1:c.617C>G | XP_011539879.1:p.Ala206Gly | |
| XM_011541578.1:c.518C>G | XP_011539880.1:p.Ala173Gly | |
| XM_011541579.1:c.488C>G | XP_011539881.1:p.Ala163Gly | |
| XM_011541580.1:c.446C>G | XP_011539882.1:p.Ala149Gly | |
| XM_005263470.5:c.383C>G | XP_005263527.1:p.Ala128Gly | |
| XM_011541577.2:c.617C>G | XP_011539879.1:p.Ala206Gly | |
| XM_011541578.2:c.518C>G | XP_011539880.1:p.Ala173Gly | |
| XM_011541579.3:c.488C>G | XP_011539881.1:p.Ala163Gly | |
| XM_024447651.1:c.383C>G | XP_024303419.1:p.Ala128Gly | |
| NM_004565.3:c.575C>G MANE Select | NP_004556.1:p.Ala192Gly |