Linked Data
ClinVar Variation Id:
2018185
ClinVar RCV Id:
RCV002870748
dbSNP Id:
rs200978212
ExAC:
12:125432747 G / A
gnomAD v2:
12-125432747-G-A
gnomAD v3:
12-124948201-G-A
gnomAD v4:
12-124948201-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.124948201G>A , CM000674.2:g.124948201G>A | GRCh38 |
| NC_000012.11:g.125432747G>A , CM000674.1:g.125432747G>A | GRCh37 |
| NC_000012.10:g.123998700G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308736.7:c.3291-20C>T MANE Select | ENSP00000311135.2:n.3291-20C>T | |
| ENST00000544745.2:c.2762-20C>T | ||
| ENST00000308736.6:c.3291-20C>T | ENSP00000311135.2:n.3291-20C>T | |
| ENST00000507267.2:n.415C>T | ||
| ENST00000539298.1:n.3391-20C>T | ||
| ENST00000542400.5:n.1905-20C>T | ||
| ENST00000544745.1:c.2652-20C>T | ENSP00000439009.1:n.2652-20C>T | |
| NM_032656.3:c.3291-20C>T | NP_116045.2:n.3291-20C>T | |
| XM_005253590.2:c.3291-20C>T | XP_005253647.1:n.3291-20C>T | |
| XM_005253590.3:c.3291-20C>T | XP_005253647.1:n.3291-20C>T | |
| XR_001748819.1:n.3431-20C>T | ||
| XR_001748820.1:n.3384-20C>T | ||
| NM_032656.4:c.3291-20C>T MANE Select | NP_116045.2:n.3291-20C>T |