Linked Data
ClinVar Variation Id:
43568
dbSNP Id:
rs111033454
ExAC:
7:107323726 G / A
gnomAD v2:
7-107323726-G-A
gnomAD v3:
7-107683281-G-A
gnomAD v4:
7-107683281-G-A
COSMIC:
COSM1083871
PubMed:
PMID:23891399
ERepo:
CA261440/MONDO:0010134/005
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107683281G>A , CM000669.2:g.107683281G>A | GRCh38 |
| NC_000007.13:g.107323726G>A , CM000669.1:g.107323726G>A | GRCh37 |
| NC_000007.12:g.107110962G>A | NCBI36 |
| NG_008489.1:g.27647G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000644269.2:c.845G>A MANE Select | ENSP00000494017.1:p.Cys282Tyr | |
| ENST00000265715.7:c.845G>A | ENSP00000265715.3:p.Cys282Tyr | |
| NM_000441.1:c.845G>A | NP_000432.1:p.Cys282Tyr | |
| XM_005250425.1:c.845G>A | XP_005250482.1:p.Cys282Tyr | |
| XM_006716025.2:c.845G>A | XP_006716088.1:p.Cys282Tyr | |
| XM_005250425.2:c.845G>A | XP_005250482.1:p.Cys282Tyr | |
| XM_006716025.3:c.845G>A | XP_006716088.1:p.Cys282Tyr | |
| XM_017012318.1:c.845G>A | XP_016867807.1:p.Cys282Tyr | |
| NM_000441.2:c.845G>A MANE Select | NP_000432.1:p.Cys282Tyr |