Linked Data
ClinVar Variation Id:
289311
dbSNP Id:
rs766017194
ExAC:
14:88904412 C / T
gnomAD v2:
14-88904412-C-T
gnomAD v3:
14-88438068-C-T
gnomAD v4:
14-88438068-C-T
COSMIC:
COSM6029364
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.88438068C>T , CM000676.2:g.88438068C>T | GRCh38 |
| NC_000014.8:g.88904412C>T , CM000676.1:g.88904412C>T | GRCh37 |
| NC_000014.7:g.87974165C>T | NCBI36 |
| NG_021183.1:g.57425C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393545.9:c.1446C>T MANE Select | ENSP00000377176.4:p.Asn482= | |
| ENST00000045347.11:c.1281+165C>T | ENSP00000045347.7:n.1281+165C>T | |
| ENST00000356583.9:c.1350C>T | ENSP00000348991.5:p.Asn450= | |
| ENST00000393545.8:c.1446C>T | ENSP00000377176.4:p.Asn482= | |
| ENST00000553303.1:n.876C>T | ||
| ENST00000553626.5:n.3225C>T | ||
| ENST00000554802.1:c.177+165C>T | ENSP00000451019.1:n.177+165C>T | |
| ENST00000556406.5:c.254+165C>T | ||
| ENST00000556553.5:c.1350C>T | ENSP00000451128.1:p.Asn450= | |
| ENST00000556666.5:n.1993C>T | ||
| NM_001040428.3:c.1350C>T | NP_001035518.1:p.Asn450= | |
| NM_018418.4:c.1446C>T | NP_060888.2:p.Asn482= | |
| XM_005267851.1:c.1449C>T | XP_005267908.1:p.Asn483= | |
| XM_005267852.1:c.1353C>T | XP_005267909.1:p.Asn451= | |
| XM_005267854.1:c.1257C>T | XP_005267911.1:p.Asn419= | |
| XM_005267855.1:c.1257C>T | XP_005267912.1:p.Asn419= | |
| XM_006720204.1:c.1284+165C>T | XP_006720267.1:n.1284+165C>T | |
| XM_006720205.1:c.1284+165C>T | XP_006720268.1:n.1284+165C>T | |
| XM_011536951.1:c.1296C>T | XP_011535253.1:p.Asn432= | |
| XM_011536952.1:c.1278C>T | XP_011535254.1:p.Asn426= | |
| XM_011536953.1:c.1131C>T | XP_011535255.1:p.Asn377= | |
| XM_005267852.2:c.1353C>T | XP_005267909.1:p.Asn451= | |
| XM_017021452.1:c.1293C>T | XP_016876941.1:p.Asn431= | |
| XM_017021453.1:c.1257C>T | XP_016876942.1:p.Asn419= | |
| XM_017021454.1:c.1254C>T | XP_016876943.1:p.Asn418= | |
| XM_017021455.1:c.1254C>T | XP_016876944.1:p.Asn418= | |
| XM_017021456.1:c.1254C>T | XP_016876945.1:p.Asn418= | |
| XM_017021457.1:c.1128C>T | XP_016876946.1:p.Asn376= | |
| XM_024449660.1:c.1275C>T | XP_024305428.1:p.Asn425= | |
| NM_018418.5:c.1446C>T MANE Select | NP_060888.2:p.Asn482= | |
| NM_001040428.4:c.1350C>T | NP_001035518.1:p.Asn450= |