Linked Data
ClinVar Variation Id:
1921907
ClinVar RCV Id:
RCV002621477
dbSNP Id:
rs10846782
ExAC:
12:125432618 G / A
gnomAD v2:
12-125432618-G-A
gnomAD v3:
12-124948072-G-A
gnomAD v4:
12-124948072-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.124948072G>A , CM000674.2:g.124948072G>A | GRCh38 |
| NC_000012.11:g.125432618G>A , CM000674.1:g.125432618G>A | GRCh37 |
| NC_000012.10:g.123998571G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308736.7:c.3388+12C>T MANE Select | ENSP00000311135.2:n.3388+12C>T | |
| ENST00000544745.2:c.2871C>T | ||
| ENST00000308736.6:c.3388+12C>T | ENSP00000311135.2:n.3388+12C>T | |
| ENST00000507267.2:n.532+12C>T | ||
| ENST00000539298.1:n.3488+12C>T | ||
| ENST00000542400.5:n.2002+12C>T | ||
| ENST00000544745.1:c.2761C>T | ENSP00000439009.1:p.Gln921Ter | |
| NM_032656.3:c.3388+12C>T | NP_116045.2:n.3388+12C>T | |
| XM_005253590.2:c.3400C>T | XP_005253647.1:p.Gln1134Ter | |
| XM_005253590.3:c.3400C>T | XP_005253647.1:p.Gln1134Ter | |
| XR_001748819.1:n.3528+12C>T | ||
| XR_001748820.1:n.3481+12C>T | ||
| NM_032656.4:c.3388+12C>T MANE Select | NP_116045.2:n.3388+12C>T |