Linked Data
ClinVar Variation Id:
289941
dbSNP Id:
rs199634070
ExAC:
1:2234410 A / G
gnomAD v2:
1-2234410-A-G
gnomAD v3:
1-2302971-A-G
gnomAD v4:
1-2302971-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.2302971A>G , CM000663.2:g.2302971A>G | GRCh38 |
| NC_000001.10:g.2234410A>G , CM000663.1:g.2234410A>G | GRCh37 |
| NC_000001.9:g.2224270A>G | NCBI36 |
| NG_013084.1:g.79277A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704337.1:n.138-7A>G | ||
| ENST00000378536.5:c.970-7A>G MANE Select | ENSP00000367797.4:n.970-7A>G | |
| ENST00000378536.4:c.970-7A>G | ENSP00000367797.4:n.970-7A>G | |
| ENST00000478223.2:n.77-7A>G | ||
| ENST00000508416.1:n.192-7A>G | ||
| NM_003036.3:c.970-7A>G | NP_003027.1:n.970-7A>G | |
| XM_005244775.2:c.970-7A>G | XP_005244832.1:n.970-7A>G | |
| XM_005244776.3:c.100-7A>G | XP_005244833.1:n.100-7A>G | |
| XM_005244775.3:c.970-7A>G | XP_005244832.1:n.970-7A>G | |
| XM_005244776.4:c.100-7A>G | XP_005244833.1:n.100-7A>G | |
| XM_017002128.1:c.478-7A>G | XP_016857617.1:n.478-7A>G | |
| NM_003036.4:c.970-7A>G MANE Select | NP_003027.1:n.970-7A>G |