Linked Data
ClinVar Variation Id:
382483
dbSNP Id:
rs138398782
ExAC:
7:107543976 A / G
gnomAD v2:
7-107543976-A-G
gnomAD v3:
7-107903531-A-G
gnomAD v4:
7-107903531-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107903531A>G , CM000669.2:g.107903531A>G | GRCh38 |
| NC_000007.13:g.107543976A>G , CM000669.1:g.107543976A>G | GRCh37 |
| NC_000007.12:g.107331212A>G | NCBI36 |
| NG_008045.1:g.17391A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000205402.10:c.321A>G MANE Select | ENSP00000205402.3:p.Ala107= | |
| ENST00000639772.1:c.321A>G | ENSP00000492159.1:p.Ala107= | |
| ENST00000205402.9:c.321A>G | ENSP00000205402.3:p.Ala107= | |
| ENST00000415325.5:c.172A>G | ENSP00000402593.1:p.Ile58Val | |
| ENST00000417551.5:c.321A>G | ENSP00000390667.1:p.Ala107= | |
| ENST00000437604.6:c.321A>G | ENSP00000387542.2:p.Ala107= | |
| ENST00000440410.5:c.252A>G | ENSP00000417016.1:p.Ala84= | |
| ENST00000450038.5:c.321A>G | ENSP00000409590.1:p.Ala107= | |
| ENST00000451081.5:c.321A>G | ENSP00000388077.1:p.Ala107= | |
| ENST00000453354.5:n.386A>G | ||
| ENST00000460577.5:n.355A>G | ||
| ENST00000478414.1:n.29A>G | ||
| ENST00000494441.1:n.466A>G | ||
| NM_000108.4:c.321A>G | NP_000099.2:p.Ala107= | |
| NM_001289750.1:c.24A>G | NP_001276679.1:p.Ala8= | |
| NM_001289751.1:c.252A>G | NP_001276680.1:p.Ala84= | |
| NM_001289752.1:c.321A>G | NP_001276681.1:p.Ala107= | |
| NM_000108.5:c.321A>G MANE Select | NP_000099.2:p.Ala107= |