Linked Data
ClinVar Variation Id:
291679
dbSNP Id:
rs201107513
ExAC:
1:10689765 C / G
gnomAD v2:
1-10689765-C-G
gnomAD v3:
1-10629708-C-G
gnomAD v4:
1-10629708-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.10629708C>G , CM000663.2:g.10629708C>G | GRCh38 |
| NC_000001.10:g.10689765C>G , CM000663.1:g.10689765C>G | GRCh37 |
| NC_000001.9:g.10612352C>G | NCBI36 |
| NG_008340.1:g.159763C>G | |
| NG_008340.2:g.159763C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356607.9:c.855C>G MANE Select | ENSP00000349016.4:p.Gly285= | |
| ENST00000356607.8:c.855C>G | ENSP00000349016.4:p.Gly285= | |
| NM_004565.2:c.855C>G | NP_004556.1:p.Gly285= | |
| XM_005263470.3:c.663C>G | XP_005263527.1:p.Gly221= | |
| XM_011541577.1:c.897C>G | XP_011539879.1:p.Gly299= | |
| XM_011541578.1:c.798C>G | XP_011539880.1:p.Gly266= | |
| XM_011541579.1:c.768C>G | XP_011539881.1:p.Gly256= | |
| XM_011541580.1:c.726C>G | XP_011539882.1:p.Gly242= | |
| XM_005263470.5:c.663C>G | XP_005263527.1:p.Gly221= | |
| XM_011541577.2:c.897C>G | XP_011539879.1:p.Gly299= | |
| XM_011541578.2:c.798C>G | XP_011539880.1:p.Gly266= | |
| XM_011541579.3:c.768C>G | XP_011539881.1:p.Gly256= | |
| XM_024447651.1:c.663C>G | XP_024303419.1:p.Gly221= | |
| NM_004565.3:c.855C>G MANE Select | NP_004556.1:p.Gly285= |