Linked Data
ClinVar Variation Id:
418166
dbSNP Id:
rs139133047
ExAC:
4:3487310 A / G
gnomAD v2:
4-3487310-A-G
gnomAD v3:
4-3485583-A-G
gnomAD v4:
4-3485583-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.3485583A>G , CM000666.2:g.3485583A>G | GRCh38 |
| NC_000004.11:g.3487310A>G , CM000666.1:g.3487310A>G | GRCh37 |
| NC_000004.10:g.3457108A>G | NCBI36 |
| NG_013072.2:g.27278A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340083.6:c.577A>G MANE Select | ENSP00000344432.5:p.Ser193Gly | |
| ENST00000643608.1:c.145A>G | ENSP00000495701.1:p.Ser49Gly | |
| ENST00000340083.5:c.577A>G | ENSP00000344432.5:p.Ser193Gly | |
| ENST00000503688.5:n.210A>G | ||
| ENST00000507039.5:c.566A>G | ENSP00000423614.1:p.Gln189Arg | |
| ENST00000513995.1:n.235A>G | ||
| ENST00000515886.5:n.345A>G | ||
| NM_001164673.1:c.566A>G | NP_001158145.1:p.Gln189Arg | |
| NM_001256896.1:c.-354A>G | NP_001243825.1:n.-354A>G | |
| NM_001301071.1:c.577A>G | NP_001288000.1:p.Ser193Gly | |
| NM_173660.4:c.577A>G | NP_775931.3:p.Ser193Gly | |
| XM_011513435.1:c.577A>G | XP_011511737.1:p.Ser193Gly | |
| XM_011513436.1:c.577A>G | XP_011511738.1:p.Ser193Gly | |
| XM_011513437.1:c.163A>G | XP_011511739.1:p.Ser55Gly | |
| NM_001363811.1:c.145A>G | NP_001350740.1:p.Ser49Gly | |
| XM_011513435.2:c.577A>G | XP_011511737.1:p.Ser193Gly | |
| XM_011513437.2:c.163A>G | XP_011511739.1:p.Ser55Gly | |
| NM_173660.5:c.577A>G MANE Select | NP_775931.3:p.Ser193Gly | |
| NM_001164673.2:c.566A>G | NP_001158145.1:p.Gln189Arg | |
| NM_001301071.2:c.577A>G | NP_001288000.1:p.Ser193Gly | |
| NM_001363811.2:c.145A>G | NP_001350740.1:p.Ser49Gly | |
| NM_001256896.2:c.-354A>G | NP_001243825.1:n.-354A>G |