Linked Data
ClinVar Variation Id:
314416
dbSNP Id:
rs188707531
ExAC:
14:76099957 C / T
gnomAD v2:
14-76099957-C-T
gnomAD v3:
14-75633614-C-T
gnomAD v4:
14-75633614-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75633614C>T , CM000676.2:g.75633614C>T | GRCh38 |
| NC_000014.8:g.76099957C>T , CM000676.1:g.76099957C>T | GRCh37 |
| NC_000014.7:g.75169710C>T | NCBI36 |
| NG_027694.1:g.60018C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000238667.9:c.953-15C>T MANE Select | ENSP00000238667.4:n.953-15C>T | |
| ENST00000238667.8:c.953-15C>T | ENSP00000238667.4:n.953-15C>T | |
| ENST00000539311.5:c.338-15C>T | ENSP00000443439.1:n.338-15C>T | |
| ENST00000553341.5:c.56-15C>T | ENSP00000452584.1:n.56-15C>T | |
| ENST00000553587.5:c.197-15C>T | ENSP00000451603.1:n.197-15C>T | |
| ENST00000554496.1:n.187-12787C>T | ||
| ENST00000554580.5:c.53-15C>T | ENSP00000451781.1:n.53-15C>T | |
| ENST00000555027.1:c.98-15C>T | ENSP00000452453.1:n.98-15C>T | |
| ENST00000555058.5:c.197-15C>T | ENSP00000451104.1:n.197-15C>T | |
| ENST00000555385.1:n.59-29441C>T | ||
| ENST00000556241.5:n.305-1296C>T | ||
| ENST00000556409.1:n.327-15C>T | ||
| ENST00000556856.1:c.196+8862C>T | ENSP00000452468.1:n.196+8862C>T | |
| NM_001195283.1:c.338-15C>T | NP_001182212.1:n.338-15C>T | |
| NM_017791.2:c.953-15C>T | NP_060261.2:n.953-15C>T | |
| NM_017791.3:c.953-15C>T MANE Select | NP_060261.2:n.953-15C>T | |
| NM_001195283.2:c.338-15C>T | NP_001182212.1:n.338-15C>T |