Linked Data
ClinVar Variation Id:
498151
dbSNP Id:
rs781098256
ExAC:
1:10690017 C / T
gnomAD v2:
1-10690017-C-T
gnomAD v3:
1-10629960-C-T
gnomAD v4:
1-10629960-C-T
COSMIC:
COSM4020080
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.10629960C>T , CM000663.2:g.10629960C>T | GRCh38 |
| NC_000001.10:g.10690017C>T , CM000663.1:g.10690017C>T | GRCh37 |
| NC_000001.9:g.10612604C>T | NCBI36 |
| NG_008340.1:g.160015C>T | |
| NG_008340.2:g.160015C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356607.9:c.1107C>T MANE Select | ENSP00000349016.4:p.Gly369= | |
| ENST00000356607.8:c.1107C>T | ENSP00000349016.4:p.Gly369= | |
| NM_004565.2:c.1107C>T | NP_004556.1:p.Gly369= | |
| XM_005263470.3:c.915C>T | XP_005263527.1:p.Gly305= | |
| XM_011541577.1:c.1149C>T | XP_011539879.1:p.Gly383= | |
| XM_011541578.1:c.1050C>T | XP_011539880.1:p.Gly350= | |
| XM_011541579.1:c.1020C>T | XP_011539881.1:p.Gly340= | |
| XM_011541580.1:c.978C>T | XP_011539882.1:p.Gly326= | |
| XM_005263470.5:c.915C>T | XP_005263527.1:p.Gly305= | |
| XM_011541577.2:c.1149C>T | XP_011539879.1:p.Gly383= | |
| XM_011541578.2:c.1050C>T | XP_011539880.1:p.Gly350= | |
| XM_011541579.3:c.1020C>T | XP_011539881.1:p.Gly340= | |
| XM_024447651.1:c.915C>T | XP_024303419.1:p.Gly305= | |
| NM_004565.3:c.1107C>T MANE Select | NP_004556.1:p.Gly369= |