Linked Data
ClinVar Variation Id:
2928771
ClinVar RCV Id:
RCV003789545
dbSNP Id:
rs762201938
ExAC:
7:94030935 A / G
gnomAD v2:
7-94030935-A-G
gnomAD v3:
7-94401623-A-G
gnomAD v4:
7-94401623-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94401623A>G , CM000669.2:g.94401623A>G | GRCh38 |
| NC_000007.13:g.94030935A>G , CM000669.1:g.94030935A>G | GRCh37 |
| NC_000007.12:g.93868871A>G | NCBI36 |
| NG_007405.1:g.12063A>G , LRG_2:g.12063A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.279+3A>G MANE Select | ENSP00000297268.6:n.279+3A>G | |
| ENST00000297268.10:c.279+3A>G | ENSP00000297268.6:n.279+3A>G | |
| ENST00000620463.1:c.273+3A>G | ENSP00000477719.1:n.273+3A>G | |
| NM_000089.3:c.279+3A>G , LRG_2t1:c.279+3A>G | NP_000080.2:n.279+3A>G | |
| NM_000089.4:c.279+3A>G MANE Select | NP_000080.2:n.279+3A>G |