Linked Data
ClinVar Variation Id:
65472
ClinVar RCV Id:
RCV000055663
dbSNP Id:
rs373501414
ExAC:
16:71025300 C / A
gnomAD v2:
16-71025300-C-A
gnomAD v3:
16-70991397-C-A
gnomAD v4:
16-70991397-C-A
COSMIC:
COSM161637
PubMed:
PMID:23849777
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.70991397C>A , CM000678.2:g.70991397C>A | GRCh38 |
| NC_000016.9:g.71025300C>A , CM000678.1:g.71025300C>A | GRCh37 |
| NG_033116.1:g.244326G>T | |
| NG_033116.2:g.244326G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393567.7:c.3786-1G>T MANE Select | ENSP00000377197.2:n.3786-1G>T | |
| ENST00000393552.6:c.2495+673G>T | ENSP00000463767.1:n.2495+673G>T | |
| ENST00000393567.6:c.3786-1G>T | ENSP00000377197.2:n.3786-1G>T | |
| NM_001270974.1:c.3786-1G>T | NP_001257903.1:n.3786-1G>T | |
| XM_006721206.2:c.3837-1G>T | XP_006721269.1:n.3837-1G>T | |
| XM_011523146.1:c.3969-1G>T | XP_011521448.1:n.3969-1G>T | |
| XM_011523147.1:c.3939-1G>T | XP_011521449.1:n.3939-1G>T | |
| XM_011523148.1:c.3888-1G>T | XP_011521450.1:n.3888-1G>T | |
| XM_011523149.1:c.3888-1G>T | XP_011521451.1:n.3888-1G>T | |
| XM_011523150.1:c.3888-1G>T | XP_011521452.1:n.3888-1G>T | |
| XM_011523151.1:c.3867-1G>T | XP_011521453.1:n.3867-1G>T | |
| NM_001270974.2:c.3786-1G>T MANE Select | NP_001257903.1:n.3786-1G>T | |
| XM_006721206.3:c.3837-1G>T | XP_006721269.1:n.3837-1G>T | |
| XM_011523146.2:c.3969-1G>T | XP_011521448.1:n.3969-1G>T | |
| XM_011523151.2:c.3867-1G>T | XP_011521453.1:n.3867-1G>T | |
| XM_017023346.2:c.3906-1G>T | XP_016878835.1:n.3906-1G>T | |
| XM_017023347.1:c.1998-1G>T | XP_016878836.1:n.1998-1G>T | |
| XM_017023348.1:c.1998-1G>T | XP_016878837.1:n.1998-1G>T |