Linked Data
ClinVar Variation Id:
346987
dbSNP Id:
rs367822877
ExAC:
3:98312050 T / A
gnomAD v2:
3-98312050-T-A
gnomAD v3:
3-98593206-T-A
gnomAD v4:
3-98593206-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.98593206T>A , CM000665.2:g.98593206T>A | GRCh38 |
| NC_000003.11:g.98312050T>A , CM000665.1:g.98312050T>A | GRCh37 |
| NC_000003.10:g.99794740T>A | NCBI36 |
| NG_015994.1:g.5406A>T | |
| NG_015994.2:g.5406A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647941.2:c.299A>T MANE Select | ENSP00000497326.1:p.Glu100Val | |
| ENST00000264193.2:c.299A>T | ENSP00000264193.2:p.Glu100Val | |
| ENST00000513674.1:c.299A>T | ENSP00000424924.1:p.Glu100Val | |
| ENST00000515041.1:n.405A>T | ||
| NM_000097.5:c.299A>T | NP_000088.3:p.Glu100Val | |
| XM_005247125.3:c.299A>T | XP_005247182.1:p.Glu100Val | |
| XM_011512437.1:c.299A>T | XP_011510739.1:p.Glu100Val | |
| NM_000097.7:c.299A>T MANE Select | NP_000088.3:p.Glu100Val | |
| XM_005247125.4:c.299A>T | XP_005247182.1:p.Glu100Val | |
| XR_001740025.2:n.470A>T | ||
| XR_001740026.1:n.475A>T | ||
| XR_001740027.1:n.479A>T | ||
| XR_001740028.1:n.479A>T |