Linked Data
ClinVar Variation Id:
314787
dbSNP Id:
rs755958987
ExAC:
14:88904178 C / T
gnomAD v2:
14-88904178-C-T
gnomAD v3:
14-88437834-C-T
gnomAD v4:
14-88437834-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.88437834C>T , CM000676.2:g.88437834C>T | GRCh38 |
| NC_000014.8:g.88904178C>T , CM000676.1:g.88904178C>T | GRCh37 |
| NC_000014.7:g.87973931C>T | NCBI36 |
| NG_021183.1:g.57191C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393545.9:c.1216-4C>T MANE Select | ENSP00000377176.4:n.1216-4C>T | |
| ENST00000045347.11:c.1216-4C>T | ENSP00000045347.7:n.1216-4C>T | |
| ENST00000356583.9:c.1120-4C>T | ENSP00000348991.5:n.1120-4C>T | |
| ENST00000393545.8:c.1216-4C>T | ENSP00000377176.4:n.1216-4C>T | |
| ENST00000553303.1:n.646-4C>T | ||
| ENST00000553626.5:n.2995-4C>T | ||
| ENST00000554802.1:c.112-4C>T | ENSP00000451019.1:n.112-4C>T | |
| ENST00000556406.5:c.189-4C>T | ||
| ENST00000556553.5:c.1120-4C>T | ENSP00000451128.1:n.1120-4C>T | |
| ENST00000556666.5:n.1763-4C>T | ||
| NM_001040428.3:c.1120-4C>T | NP_001035518.1:n.1120-4C>T | |
| NM_018418.4:c.1216-4C>T | NP_060888.2:n.1216-4C>T | |
| XM_005267851.1:c.1219-4C>T | XP_005267908.1:n.1219-4C>T | |
| XM_005267852.1:c.1123-4C>T | XP_005267909.1:n.1123-4C>T | |
| XM_005267854.1:c.1027-4C>T | XP_005267911.1:n.1027-4C>T | |
| XM_005267855.1:c.1027-4C>T | XP_005267912.1:n.1027-4C>T | |
| XM_006720204.1:c.1219-4C>T | XP_006720267.1:n.1219-4C>T | |
| XM_006720205.1:c.1219-4C>T | XP_006720268.1:n.1219-4C>T | |
| XM_011536951.1:c.1066-4C>T | XP_011535253.1:n.1066-4C>T | |
| XM_011536952.1:c.1048-4C>T | XP_011535254.1:n.1048-4C>T | |
| XM_011536953.1:c.901-4C>T | XP_011535255.1:n.901-4C>T | |
| XM_005267852.2:c.1123-4C>T | XP_005267909.1:n.1123-4C>T | |
| XM_017021452.1:c.1063-4C>T | XP_016876941.1:n.1063-4C>T | |
| XM_017021453.1:c.1027-4C>T | XP_016876942.1:n.1027-4C>T | |
| XM_017021454.1:c.1024-4C>T | XP_016876943.1:n.1024-4C>T | |
| XM_017021455.1:c.1024-4C>T | XP_016876944.1:n.1024-4C>T | |
| XM_017021456.1:c.1024-4C>T | XP_016876945.1:n.1024-4C>T | |
| XM_017021457.1:c.898-4C>T | XP_016876946.1:n.898-4C>T | |
| XM_024449660.1:c.1045-4C>T | XP_024305428.1:n.1045-4C>T | |
| NM_018418.5:c.1216-4C>T MANE Select | NP_060888.2:n.1216-4C>T | |
| NM_001040428.4:c.1120-4C>T | NP_001035518.1:n.1120-4C>T |