Linked Data
ClinVar Variation Id:
366770
dbSNP Id:
rs763429317
ExAC:
9:35684813 G / A
gnomAD v2:
9-35684813-G-A
gnomAD v3:
9-35684816-G-A
gnomAD v4:
9-35684816-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.35684816G>A , CM000671.2:g.35684816G>A | GRCh38 |
| NC_000009.11:g.35684813G>A , CM000671.1:g.35684813G>A | GRCh37 |
| NC_000009.10:g.35674813G>A | NCBI36 |
| NG_011620.1:g.10242C>T , LRG_680:g.10242C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378292.9:c.639+248C>T | ENSP00000367542.3:n.639+248C>T | |
| ENST00000643485.1:n.399-9C>T | ||
| ENST00000645482.3:c.564-9C>T MANE Select | ENSP00000496494.2:n.564-9C>T | |
| ENST00000647435.1:c.639+248C>T | ENSP00000495440.1:n.639+248C>T | |
| ENST00000329305.6:c.564-9C>T | ENSP00000367541.1:n.564-9C>T | |
| ENST00000360958.6:c.564-9C>T | ENSP00000354219.2:n.564-9C>T | |
| ENST00000378292.7:c.639+248C>T | ENSP00000367542.3:n.639+248C>T | |
| ENST00000378300.9:c.564-9C>T | ENSP00000367550.5:n.564-9C>T | |
| ENST00000471212.5:n.970C>T | ||
| ENST00000486018.1:n.634C>T | ||
| ENST00000607559.1:c.105-9C>T | ENSP00000475952.1:n.105-9C>T | |
| NM_001301226.1:c.564-9C>T | NP_001288155.1:n.564-9C>T | |
| NM_001301227.1:c.639+248C>T | NP_001288156.1:n.639+248C>T | |
| NM_003289.3:c.564-9C>T , LRG_680t2:c.564-9C>T | NP_003280.2:n.564-9C>T | |
| NM_213674.1:c.639+248C>T , LRG_680t1:c.639+248C>T | NP_998839.1:n.639+248C>T | |
| XR_929320.1:n.995C>T | ||
| XR_929321.1:n.995C>T | ||
| XR_929322.1:n.747+248C>T | ||
| XR_929323.1:n.672-9C>T | ||
| XR_929324.1:n.751-9C>T | ||
| XR_929325.1:n.748-9C>T | ||
| XM_017015087.2:c.887C>T | XP_016870576.1:p.Pro296Leu | |
| XM_017015088.2:c.887C>T | XP_016870577.1:p.Pro296Leu | |
| XM_017015090.2:c.639+248C>T | XP_016870579.1:n.639+248C>T | |
| XM_017015091.2:c.564-9C>T | XP_016870580.1:n.564-9C>T | |
| XM_017015092.2:c.640-9C>T | XP_016870581.1:n.640-9C>T | |
| XM_017015093.2:c.640-9C>T | XP_016870582.1:n.640-9C>T | |
| NM_001301226.2:c.564-9C>T | NP_001288155.1:n.564-9C>T | |
| NM_003289.4:c.564-9C>T MANE Select | NP_003280.2:n.564-9C>T | |
| NM_001301227.2:c.639+248C>T | NP_001288156.1:n.639+248C>T |