Linked Data
dbSNP Id:
rs1997623
gnomAD v2:
7-116165360-A-G
gnomAD v3:
7-116525306-A-G
gnomAD v4:
7-116525306-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.116525306A>G , CM000669.2:g.116525306A>G | GRCh38 |
| NC_000007.13:g.116165360A>G , CM000669.1:g.116165360A>G | GRCh37 |
| NC_000007.12:g.115952596A>G | NCBI36 |
| NG_012051.1:g.5522A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000341049.7:c.30+214A>G MANE Select | ENSP00000339191.2:n.30+214A>G | |
| ENST00000614113.5:c.30+214A>G | ENSP00000479447.2:n.30+214A>G | |
| ENST00000341049.6:c.30+214A>G | ENSP00000339191.2:n.30+214A>G | |
| ENST00000393470.1:c.30+214A>G | ENSP00000377113.1:n.30+214A>G | |
| ENST00000451122.5:c.244A>G | ENSP00000409541.1:p.Arg82Gly | |
| ENST00000489856.1:n.81+214A>G | ||
| ENST00000614113.4:c.-563A>G | ENSP00000479447.1:n.-563A>G | |
| NM_001172895.1:c.-563A>G | NP_001166366.1:n.-563A>G | |
| NM_001753.4:c.30+214A>G | NP_001744.2:n.30+214A>G | |
| NM_001753.5:c.30+214A>G MANE Select | NP_001744.2:n.30+214A>G |