Linked Data
ClinVar Variation Id:
1637175
ClinVar RCV Id:
RCV002131028
dbSNP Id:
rs370366356
ExAC:
11:20649642 A / G
gnomAD v2:
11-20649642-A-G
gnomAD v3:
11-20628096-A-G
gnomAD v4:
11-20628096-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.20628096A>G , CM000673.2:g.20628096A>G | GRCh38 |
| NC_000011.9:g.20649642A>G , CM000673.1:g.20649642A>G | GRCh37 |
| NC_000011.8:g.20606218A>G | NCBI36 |
| NG_013086.1:g.33697A>G | |
| NG_013086.2:g.33697A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525748.6:c.1499+13A>G MANE Select | ENSP00000434364.2:n.1499+13A>G | |
| ENST00000298923.11:c.*796+13A>G | ENSP00000298923.7:n.*796+13A>G | |
| ENST00000525748.5:c.1499+13A>G | ENSP00000434364.1:n.1499+13A>G | |
| NM_004211.3:c.1499+13A>G | NP_004202.2:n.1499+13A>G | |
| XM_005253225.1:c.797+13A>G | XP_005253282.1:n.797+13A>G | |
| XM_011520473.1:c.1499+13A>G | XP_011518775.1:n.1499+13A>G | |
| NM_001318369.1:c.797+13A>G | NP_001305298.1:n.797+13A>G | |
| NM_004211.4:c.1499+13A>G | NP_004202.3:n.1499+13A>G | |
| XM_017018544.2:c.623+13A>G | XP_016874033.1:n.623+13A>G | |
| XM_017018545.2:c.458+13A>G | XP_016874034.1:n.458+13A>G | |
| NM_001318369.2:c.797+13A>G | NP_001305298.1:n.797+13A>G | |
| NM_004211.5:c.1499+13A>G MANE Select | NP_004202.4:n.1499+13A>G |