Linked Data
ClinVar Variation Id:
674810
ClinVar RCV Id:
RCV000834136
dbSNP Id:
rs406226
gnomAD v2:
7-94033800-A-G
gnomAD v3:
7-94404488-A-G
gnomAD v4:
7-94404488-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94404488A>G , CM000669.2:g.94404488A>G | GRCh38 |
| NC_000007.13:g.94033800A>G , CM000669.1:g.94033800A>G | GRCh37 |
| NC_000007.12:g.93871736A>G | NCBI36 |
| NG_007405.1:g.14928A>G , LRG_2:g.14928A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.280-68A>G MANE Select | ENSP00000297268.6:n.280-68A>G | |
| ENST00000297268.10:c.280-68A>G | ENSP00000297268.6:n.280-68A>G | |
| ENST00000620463.1:c.274-68A>G | ENSP00000477719.1:n.274-68A>G | |
| NM_000089.3:c.280-68A>G , LRG_2t1:c.280-68A>G | NP_000080.2:n.280-68A>G | |
| NM_000089.4:c.280-68A>G MANE Select | NP_000080.2:n.280-68A>G |