Linked Data
ClinVar Variation Id:
225633
dbSNP Id:
rs778899140
ExAC:
6:165863756 T / C
gnomAD v2:
6-165863756-T-C
gnomAD v4:
6-165450268-T-C
PubMed:
PMID:27058446
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.165450268T>C , CM000668.2:g.165450268T>C | GRCh38 |
| NC_000006.11:g.165863756T>C , CM000668.1:g.165863756T>C | GRCh37 |
| NC_000006.10:g.165783746T>C | NCBI36 |
| NG_031878.2:g.216833A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366882.7:c.-456-14891A>G | ENSP00000355847.3:n.-456-14891A>G | |
| ENST00000366882.6:c.320A>G | ENSP00000355847.2:p.Tyr107Cys | |
| ENST00000539869.4:c.1118A>G MANE Select | ENSP00000438284.3:p.Tyr373Cys | |
| ENST00000647590.1:c.269A>G | ENSP00000497062.1:p.Tyr90Cys | |
| ENST00000647768.3:c.494A>G | ENSP00000497930.3:p.Tyr165Cys | |
| ENST00000647837.1:c.445A>G | ENSP00000497085.1:n.445A>G | |
| ENST00000647989.1:n.524A>G | ||
| ENST00000648884.1:c.80A>G | ENSP00000497392.1:p.Tyr27Cys | |
| ENST00000648917.1:c.326A>G | ENSP00000497277.1:p.Tyr109Cys | |
| ENST00000649247.1:c.435A>G | ||
| ENST00000649273.1:c.242A>G | ||
| ENST00000649761.1:n.476A>G | ||
| ENST00000672859.1:c.371A>G | ENSP00000500900.1:p.Tyr124Cys | |
| ENST00000672902.1:c.371A>G | ENSP00000500351.1:p.Tyr124Cys | |
| ENST00000676766.1:c.359A>G | ENSP00000504611.1:p.Tyr120Cys | |
| ENST00000676767.1:c.180A>G | ||
| ENST00000678161.1:c.*60A>G | ENSP00000503721.1:n.*60A>G | |
| ENST00000678462.1:c.191A>G | ENSP00000503041.1:p.Tyr64Cys | |
| ENST00000366882.5:c.290A>G | ENSP00000355847.1:p.Tyr97Cys | |
| ENST00000539869.2:c.320A>G | ENSP00000438284.2:p.Tyr107Cys | |
| NM_001130690.2:c.320A>G | NP_001124162.1:p.Tyr107Cys | |
| NM_006661.3:c.290A>G | NP_006652.1:p.Tyr97Cys | |
| XM_006715321.2:c.269A>G | XP_006715384.1:p.Tyr90Cys | |
| XM_011535387.1:c.371A>G | XP_011533689.1:p.Tyr124Cys | |
| XM_011535388.1:c.290A>G | XP_011533690.1:p.Tyr97Cys | |
| XM_011535389.1:c.290A>G | XP_011533691.1:p.Tyr97Cys | |
| XM_011535390.1:c.149A>G | XP_011533692.1:p.Tyr50Cys | |
| XM_011535391.1:c.80A>G | XP_011533693.1:p.Tyr27Cys | |
| XM_011535392.1:c.80A>G | XP_011533694.1:p.Tyr27Cys | |
| XM_006715321.4:c.269A>G | XP_006715384.1:p.Tyr90Cys | |
| XM_011535387.3:c.446A>G | XP_011533689.2:p.Tyr149Cys | |
| XM_011535388.3:c.290A>G | XP_011533690.1:p.Tyr97Cys | |
| XM_011535393.3:c.-805A>G | XP_011533695.1:n.-805A>G | |
| XM_017010194.2:c.446A>G | XP_016865683.1:p.Tyr149Cys | |
| XM_017010195.2:c.149A>G | XP_016865684.1:p.Tyr50Cys | |
| XM_017010196.2:c.80A>G | XP_016865685.1:p.Tyr27Cys | |
| XM_017010197.2:c.446A>G | XP_016865686.1:p.Tyr149Cys | |
| XM_024446311.1:c.290A>G | XP_024302079.1:p.Tyr97Cys | |
| XM_024446312.1:c.80A>G | XP_024302080.1:p.Tyr27Cys | |
| XR_001743121.2:n.2521A>G | ||
| NM_001130690.3:c.320A>G | NP_001124162.1:p.Tyr107Cys | |
| NM_006661.4:c.290A>G | NP_006652.1:p.Tyr97Cys | |
| NM_001385079.1:c.1118A>G MANE Select | NP_001372008.1:p.Tyr373Cys |