Linked Data
ClinVar Variation Id:
759658
dbSNP Id:
rs112122090
ExAC:
16:83711917 C / T
gnomAD v2:
16-83711917-C-T
gnomAD v3:
16-83678312-C-T
gnomAD v4:
16-83678312-C-T
COSMIC:
COSM1166404
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.83678312C>T , CM000678.2:g.83678312C>T | GRCh38 |
| NC_000016.9:g.83711917C>T , CM000678.1:g.83711917C>T | GRCh37 |
| NC_000016.8:g.82269418C>T | NCBI36 |
| NG_052819.1:g.1056519C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567109.6:c.1389C>T MANE Select | ENSP00000479395.1:p.Thr463= | |
| ENST00000268613.14:c.1530C>T | ENSP00000268613.10:p.Thr510= | |
| ENST00000428848.7:c.1272C>T | ENSP00000394557.3:p.Thr424= | |
| ENST00000539548.6:c.*1021C>T | ENSP00000442225.2:n.*1021C>T | |
| ENST00000566620.5:c.1353C>T | ENSP00000454435.3:p.Thr451= | |
| ENST00000567109.5:c.1389C>T | ENSP00000479395.1:p.Thr463= | |
| ENST00000615627.1:c.309C>T | ENSP00000482651.1:p.Thr103= | |
| ENST00000622885.4:c.1233C>T | ENSP00000483719.1:p.Thr411= | |
| NM_001220488.1:c.1530C>T | NP_001207417.1:p.Thr510= | |
| NM_001220489.1:c.1272C>T | NP_001207418.1:p.Thr424= | |
| NM_001220490.1:c.627C>T | NP_001207419.1:p.Thr209= | |
| NM_001257.4:c.1389C>T | NP_001248.1:p.Thr463= | |
| XM_011522804.1:c.1086C>T | XP_011521106.1:p.Thr362= | |
| XM_011522804.3:c.1086C>T | XP_011521106.1:p.Thr362= | |
| XR_001752385.2:n.6466-10721G>A | ||
| NM_001257.5:c.1389C>T MANE Select | NP_001248.1:p.Thr463= | |
| NM_001220488.2:c.1530C>T | NP_001207417.1:p.Thr510= | |
| NM_001220489.2:c.1272C>T | NP_001207418.1:p.Thr424= | |
| NM_001220490.2:c.627C>T | NP_001207419.1:p.Thr209= |