Linked Data
dbSNP Id:
rs1326083897
gnomAD v2:
7-94052081-A-G
gnomAD v3:
7-94422769-A-G
gnomAD v4:
7-94422769-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94422769A>G , CM000669.2:g.94422769A>G | GRCh38 |
| NC_000007.13:g.94052081A>G , CM000669.1:g.94052081A>G | GRCh37 |
| NC_000007.12:g.93890017A>G | NCBI36 |
| NG_007405.1:g.33209A>G , LRG_2:g.33209A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.2404-188A>G MANE Select | ENSP00000297268.6:n.2404-188A>G | |
| ENST00000297268.10:c.2404-188A>G | ENSP00000297268.6:n.2404-188A>G | |
| ENST00000481570.5:n.299A>G | ||
| ENST00000497316.5:n.801-188A>G | ||
| ENST00000620463.1:c.2398-188A>G | ENSP00000477719.1:n.2398-188A>G | |
| NM_000089.3:c.2404-188A>G , LRG_2t1:c.2404-188A>G | NP_000080.2:n.2404-188A>G | |
| NM_000089.4:c.2404-188A>G MANE Select | NP_000080.2:n.2404-188A>G |