Linked Data
ClinVar Variation Id:
372193
ClinVar RCV Id:
RCV000412538
dbSNP Id:
rs1057519624
PubMed:
PMID:27882484
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.3575816G>T , CM000664.2:g.3575816G>T | GRCh38 |
| NC_000002.11:g.3623406G>T , CM000664.1:g.3623406G>T | GRCh37 |
| NC_000002.10:g.3601281G>T | NCBI36 |
| NG_011744.1:g.5554G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000407445.8:c.76-1G>T | ENSP00000385729.3:n.76-1G>T | |
| ENST00000491937.6:n.122-1G>T | ||
| ENST00000645674.2:c.76-1G>T MANE Select | ENSP00000496757.1:n.76-1G>T | |
| ENST00000646909.1:c.76-1G>T | ENSP00000496654.1:n.76-1G>T | |
| ENST00000647131.1:c.76-1G>T | ENSP00000494995.1:n.76-1G>T | |
| ENST00000304921.9:c.76-1G>T | ENSP00000339095.4:n.76-1G>T | |
| ENST00000403564.5:c.76-1G>T | ENSP00000385018.1:n.76-1G>T | |
| ENST00000406376.1:c.76-1G>T | ENSP00000385286.1:n.76-1G>T | |
| ENST00000407445.7:c.76-1G>T | ENSP00000385729.3:n.76-1G>T | |
| ENST00000462576.5:n.361-1G>T | ||
| ENST00000479123.1:n.53-1G>T | ||
| ENST00000481006.1:n.328-1G>T | ||
| ENST00000491937.5:n.341-1G>T | ||
| NM_001011.3:c.76-1G>T | NP_001002.1:n.76-1G>T | |
| NM_001011.4:c.76-1G>T MANE Select | NP_001002.1:n.76-1G>T |