Linked Data
ClinVar Variation Id:
224965
dbSNP Id:
rs757674160
ExAC:
16:56870616 A / G
gnomAD v2:
16-56870616-A-G
gnomAD v4:
16-56836704-A-G
PubMed:
PMID:26878725
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56836704A>G , CM000678.2:g.56836704A>G | GRCh38 |
| NC_000016.9:g.56870616A>G , CM000678.1:g.56870616A>G | GRCh37 |
| NC_000016.8:g.55428117A>G | NCBI36 |
| NG_052904.1:g.111600A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000308159.10:c.1886A>G MANE Select | ENSP00000310668.5:p.Tyr629Cys | |
| ENST00000308159.9:c.1886A>G | ENSP00000310668.5:p.Tyr629Cys | |
| ENST00000542526.5:c.1517A>G | ENSP00000440235.1:p.Tyr506Cys | |
| ENST00000563405.1:c.80A>G | ENSP00000458078.1:p.Tyr27Cys | |
| ENST00000564887.5:c.1517A>G | ENSP00000458039.1:p.Tyr506Cys | |
| ENST00000569842.5:c.1886A>G | ENSP00000458101.1:p.Tyr629Cys | |
| NM_001242795.1:c.1517A>G | NP_001229724.1:p.Tyr506Cys | |
| NM_001242796.1:c.1517A>G | NP_001229725.1:p.Tyr506Cys | |
| NM_014669.4:c.1886A>G | NP_055484.3:p.Tyr629Cys | |
| XM_005256263.2:c.1886A>G | XP_005256320.1:p.Tyr629Cys | |
| NM_001242796.2:c.1517A>G | NP_001229725.1:p.Tyr506Cys | |
| XM_005256263.3:c.1886A>G | XP_005256320.1:p.Tyr629Cys | |
| NM_014669.5:c.1886A>G MANE Select | NP_055484.3:p.Tyr629Cys | |
| NM_001242795.2:c.1517A>G | NP_001229724.1:p.Tyr506Cys |