Linked Data
ClinVar Variation Id:
1169097
dbSNP Id:
rs1799922
ExAC:
7:128415195 T / G
gnomAD v2:
7-128415195-T-G
gnomAD v3:
7-128775141-T-G
gnomAD v4:
7-128775141-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128775141T>G , CM000669.2:g.128775141T>G | GRCh38 |
| NC_000007.13:g.128415195T>G , CM000669.1:g.128415195T>G | GRCh37 |
| NC_000007.12:g.128202431T>G | NCBI36 |
| NG_009094.1:g.5650A>C | |
| NG_033110.1:g.40850T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000249389.3:c.357A>C MANE Select | ENSP00000249389.3:p.Gly119= | |
| ENST00000249389.2:c.366A>C | ENSP00000249389.2:p.Gly122= | |
| NM_001708.2:c.366A>C | NP_001699.1:p.Gly122= | |
| NM_001385125.1:c.357A>C MANE Select | NP_001372054.1:p.Gly119= |