Linked Data
ClinVar Variation Id:
1807211
ClinVar RCV Id:
RCV002475168
dbSNP Id:
rs750131585
ExAC:
9:71687521 C / T
gnomAD v2:
9-71687521-C-T
gnomAD v3:
9-69072605-C-T
gnomAD v4:
9-69072605-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.69072605C>T , CM000671.2:g.69072605C>T | GRCh38 |
| NC_000009.11:g.71687521C>T , CM000671.1:g.71687521C>T | GRCh37 |
| NC_000009.10:g.70877341C>T | NCBI36 |
| NG_008845.2:g.42043C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377270.8:c.258-7C>T | ENSP00000366482.4:n.258-7C>T | |
| ENST00000484259.3:c.483-7C>T MANE Select | ENSP00000419243.2:n.483-7C>T | |
| ENST00000642330.1:c.384+19345C>T | ENSP00000493770.1:n.384+19345C>T | |
| ENST00000642889.1:c.166-27296C>T | ENSP00000493780.1:n.166-27296C>T | |
| ENST00000643352.1:c.482+7570C>T | ENSP00000496488.1:n.482+7570C>T | |
| ENST00000643765.1:c.480+7570C>T | ||
| ENST00000644653.1:c.*86-7C>T | ENSP00000495217.1:n.*86-7C>T | |
| ENST00000644977.1:c.*207+7570C>T | ENSP00000495651.1:n.*207+7570C>T | |
| ENST00000645088.1:c.*85+7570C>T | ENSP00000495447.1:n.*85+7570C>T | |
| ENST00000646862.1:c.384+19345C>T | ENSP00000494599.1:n.384+19345C>T | |
| ENST00000377270.7:c.483-7C>T | ENSP00000366482.3:n.483-7C>T | |
| ENST00000396364.7:c.482+7570C>T | ENSP00000379650.3:n.482+7570C>T | |
| ENST00000396366.6:c.491-7C>T | ENSP00000379652.2:n.491-7C>T | |
| ENST00000484259.1:c.175-7C>T | ||
| ENST00000498653.5:c.258-7C>T | ENSP00000418015.1:n.258-7C>T | |
| NM_000144.4:c.483-7C>T | NP_000135.2:n.483-7C>T | |
| NM_001161706.1:c.482+7570C>T | NP_001155178.1:n.482+7570C>T | |
| NM_181425.2:c.491-7C>T | NP_852090.1:n.491-7C>T | |
| NM_000144.5:c.483-7C>T MANE Select | NP_000135.2:n.483-7C>T | |
| NM_181425.3:c.491-7C>T | NP_852090.1:n.491-7C>T |