Linked Data
ClinVar Variation Id:
1185454
dbSNP Id:
rs146778412
gnomAD v2:
7-286534-A-G
gnomAD v3:
7-246568-A-G
gnomAD v4:
7-246568-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.246568A>G , CM000669.2:g.246568A>G | GRCh38 |
| NC_000007.13:g.286534A>G , CM000669.1:g.286534A>G | GRCh37 |
| NG_033970.1:g.56204A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313766.6:c.956+61A>G MANE Select | ENSP00000322323.5:n.956+61A>G | |
| ENST00000313766.5:c.956+61A>G | ENSP00000322323.5:n.956+61A>G | |
| ENST00000515795.1:n.613+61A>G | ||
| NM_020223.3:c.956+61A>G | NP_064608.2:n.956+61A>G | |
| XR_242097.3:n.1103+61A>G | ||
| XM_017012450.1:c.1217+61A>G | XP_016867939.1:n.1217+61A>G | |
| XM_017012451.1:c.1214+61A>G | XP_016867940.1:n.1214+61A>G | |
| XM_017012452.1:c.1217+61A>G | XP_016867941.1:n.1217+61A>G | |
| XM_017012455.2:c.254+61A>G | XP_016867944.1:n.254+61A>G | |
| XR_001744837.1:n.1103+61A>G | ||
| NM_020223.4:c.956+61A>G MANE Select | NP_064608.2:n.956+61A>G |