Linked Data
ClinVar Variation Id:
95143
dbSNP Id:
rs146359055
ExAC:
1:10659392 C / G
gnomAD v2:
1-10659392-C-G
gnomAD v3:
1-10599335-C-G
gnomAD v4:
1-10599335-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.10599335C>G , CM000663.2:g.10599335C>G | GRCh38 |
| NC_000001.10:g.10659392C>G , CM000663.1:g.10659392C>G | GRCh37 |
| NC_000001.9:g.10581979C>G | NCBI36 |
| NG_008340.1:g.129390C>G | |
| NG_008340.2:g.129390C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356607.9:c.267C>G MANE Select | ENSP00000349016.4:p.Val89= | |
| ENST00000356607.8:c.267C>G | ENSP00000349016.4:p.Val89= | |
| ENST00000491661.2:c.252C>G | ENSP00000465473.1:p.Val84= | |
| NM_004565.2:c.267C>G | NP_004556.1:p.Val89= | |
| XM_005263470.3:c.75C>G | XP_005263527.1:p.Val25= | |
| XM_011541577.1:c.309C>G | XP_011539879.1:p.Val103= | |
| XM_011541578.1:c.210C>G | XP_011539880.1:p.Val70= | |
| XM_011541579.1:c.212-18997C>G | XP_011539881.1:n.212-18997C>G | |
| XM_011541580.1:c.170-18997C>G | XP_011539882.1:n.170-18997C>G | |
| XM_005263470.5:c.75C>G | XP_005263527.1:p.Val25= | |
| XM_011541577.2:c.309C>G | XP_011539879.1:p.Val103= | |
| XM_011541578.2:c.210C>G | XP_011539880.1:p.Val70= | |
| XM_011541579.3:c.212-18997C>G | XP_011539881.1:n.212-18997C>G | |
| XM_024447651.1:c.75C>G | XP_024303419.1:p.Val25= | |
| NM_004565.3:c.267C>G MANE Select | NP_004556.1:p.Val89= |