Linked Data
ClinVar Variation Id:
222820
dbSNP Id:
rs759663808
ExAC:
1:2234528 G / A
gnomAD v2:
1-2234528-G-A
gnomAD v4:
1-2303089-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.2303089G>A , CM000663.2:g.2303089G>A | GRCh38 |
| NC_000001.10:g.2234528G>A , CM000663.1:g.2234528G>A | GRCh37 |
| NC_000001.9:g.2224388G>A | NCBI36 |
| NG_013084.1:g.79395G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704337.1:n.249G>A | ||
| ENST00000378536.5:c.1081G>A MANE Select | ENSP00000367797.4:p.Gly361Ser | |
| ENST00000378536.4:c.1081G>A | ENSP00000367797.4:p.Gly361Ser | |
| ENST00000478223.2:n.188G>A | ||
| NM_003036.3:c.1081G>A | NP_003027.1:p.Gly361Ser | |
| XM_005244775.2:c.1081G>A | XP_005244832.1:p.Gly361Ser | |
| XM_005244776.3:c.211G>A | XP_005244833.1:p.Gly71Ser | |
| XM_005244775.3:c.1081G>A | XP_005244832.1:p.Gly361Ser | |
| XM_005244776.4:c.211G>A | XP_005244833.1:p.Gly71Ser | |
| XM_017002128.1:c.589G>A | XP_016857617.1:p.Gly197Ser | |
| NM_003036.4:c.1081G>A MANE Select | NP_003027.1:p.Gly361Ser |