Linked Data
ClinVar Variation Id:
314812
ClinVar RCV Id:
RCV000303798
dbSNP Id:
rs886050880
gnomAD v3:
14-89955923-C-T
gnomAD v4:
14-89955923-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.89955923C>T , CM000676.2:g.89955923C>T | GRCh38 |
| NC_000014.8:g.90422267C>T , CM000676.1:g.90422267C>T | GRCh37 |
| NC_000014.7:g.89492020C>T | NCBI36 |
| NG_009164.1:g.5022C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393452.7:c.-278C>T | ENSP00000377098.3:n.-278C>T | |
| ENST00000554180.5:c.-55C>T | ENSP00000450872.1:n.-55C>T | |
| ENST00000554976.5:c.-231+246C>T | ENSP00000452042.1:n.-231+246C>T | |
| NM_001008744.1:c.-55C>T | NP_001008744.1:n.-55C>T | |
| NM_018319.3:c.-278C>T | NP_060789.2:n.-278C>T | |
| XM_005267847.2:c.-231+246C>T | XP_005267904.1:n.-231+246C>T | |
| XM_011536942.1:c.-8+246C>T | XP_011535244.1:n.-8+246C>T | |
| XM_011536944.1:c.-278C>T | XP_011535246.1:n.-278C>T | |
| XR_943492.1:n.23C>T | ||
| XM_011536942.3:c.-8+246C>T | XP_011535244.1:n.-8+246C>T | |
| XM_011536944.2:c.-278C>T | XP_011535246.1:n.-278C>T | |
| XM_017021439.2:c.-162C>T | XP_016876928.1:n.-162C>T | |
| XM_017021440.2:c.-55C>T | XP_016876929.1:n.-55C>T | |
| XM_024449649.1:c.-278C>T | XP_024305417.1:n.-278C>T | |
| XM_024449650.1:c.-231+246C>T | XP_024305418.1:n.-231+246C>T | |
| XM_024449652.1:c.-55C>T | XP_024305420.1:n.-55C>T | |
| XM_024449655.1:c.-8+246C>T | XP_024305423.1:n.-8+246C>T | |
| XR_001750427.2:n.13C>T | ||
| XR_943492.3:n.17C>T |