Linked Data
ClinVar Variation Id:
217435
ClinVar RCV Id:
RCV000207846
dbSNP Id:
rs113994191
PubMed:
PMID:26518167
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.72722792A>G , CM000677.2:g.72722792A>G | GRCh38 |
| NC_000015.9:g.73015133A>G , CM000677.1:g.73015133A>G | GRCh37 |
| NC_000015.8:g.70802186A>G | NCBI36 |
| NG_009416.2:g.41608A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268057.9:c.406-2A>G MANE Select | ENSP00000268057.4:n.406-2A>G | |
| ENST00000268057.8:c.406-2A>G | ENSP00000268057.4:n.406-2A>G | |
| ENST00000395205.6:c.-113A>G | ENSP00000378631.3:n.-113A>G | |
| ENST00000561914.5:c.294-2A>G | ENSP00000457795.1:n.294-2A>G | |
| ENST00000562084.5:c.*485-2A>G | ENSP00000454718.1:n.*485-2A>G | |
| ENST00000563600.5:c.*356-2A>G | ENSP00000457753.1:n.*356-2A>G | |
| ENST00000564239.1:n.473-2A>G | ||
| ENST00000565160.5:c.409A>G | ENSP00000455412.1:p.Arg137Gly | |
| ENST00000566400.5:c.*294A>G | ENSP00000456759.1:n.*294A>G | |
| ENST00000566938.5:c.*294A>G | ENSP00000456463.1:n.*294A>G | |
| ENST00000567279.5:c.*260-2A>G | ENSP00000456664.1:n.*260-2A>G | |
| ENST00000569338.5:c.397-2A>G | ENSP00000456758.1:n.397-2A>G | |
| ENST00000569440.5:c.*353A>G | ENSP00000457958.1:n.*353A>G | |
| NM_001252678.1:c.-113A>G | NP_001239607.1:n.-113A>G | |
| NM_033028.4:c.406-2A>G | NP_149017.2:n.406-2A>G | |
| NR_045565.1:n.513-2A>G | ||
| NR_045566.1:n.768-2A>G | ||
| XM_006720625.2:c.406-2A>G | XP_006720688.1:n.406-2A>G | |
| XM_011521848.1:c.-113A>G | XP_011520150.1:n.-113A>G | |
| XM_011521849.1:c.-111-2A>G | XP_011520151.1:n.-111-2A>G | |
| XM_011521850.1:c.-113A>G | XP_011520152.1:n.-113A>G | |
| XM_011521851.1:c.-205A>G | XP_011520153.1:n.-205A>G | |
| NM_001320665.1:c.406-2A>G | NP_001307594.1:n.406-2A>G | |
| XM_017022450.1:c.430-2A>G | XP_016877939.1:n.430-2A>G | |
| XM_017022452.1:c.-111-2A>G | XP_016877941.1:n.-111-2A>G | |
| XM_017022453.1:c.-113A>G | XP_016877942.1:n.-113A>G | |
| XM_017022454.1:c.-113A>G | XP_016877943.1:n.-113A>G | |
| NM_033028.5:c.406-2A>G MANE Select | NP_149017.2:n.406-2A>G | |
| NM_001252678.2:c.-113A>G | NP_001239607.1:n.-113A>G | |
| NM_001320665.2:c.406-2A>G | NP_001307594.1:n.406-2A>G | |
| NR_045565.2:n.485-2A>G | ||
| NR_045566.2:n.740-2A>G |