Linked Data
ClinVar Variation Id:
11727
ClinVar RCV Id:
RCV000012493
dbSNP Id:
rs122445098
PubMed:
PMID:7697714
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.77558685T>C , CM000685.2:g.77558685T>C | GRCh38 |
| NC_000023.10:g.76814156T>C , CM000685.1:g.76814156T>C | GRCh37 |
| NC_000023.9:g.76700812T>C | NCBI36 |
| NG_008838.2:g.232537A>G | |
| NG_008838.3:g.232585A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373344.11:c.6488A>G MANE Select | ENSP00000362441.4:p.Tyr2163Cys | |
| ENST00000675732.1:c.1586A>G | ENSP00000502598.1:p.Tyr529Cys | |
| ENST00000373344.9:c.6488A>G | ENSP00000362441.4:p.Tyr2163Cys | |
| ENST00000395603.7:c.6374A>G | ENSP00000378967.3:p.Tyr2125Cys | |
| ENST00000480283.5:c.*6116A>G | ENSP00000480196.1:n.*6116A>G | |
| ENST00000623706.3:n.3558A>G | ||
| NM_000489.4:c.6488A>G | NP_000480.3:p.Tyr2163Cys | |
| NM_138270.3:c.6374A>G | NP_612114.2:p.Tyr2125Cys | |
| XM_005262153.3:c.6485A>G | XP_005262210.2:p.Tyr2162Cys | |
| XM_005262154.3:c.6401A>G | XP_005262211.2:p.Tyr2134Cys | |
| XM_005262155.3:c.6371A>G | XP_005262212.2:p.Tyr2124Cys | |
| XM_005262156.3:c.6323A>G | XP_005262213.2:p.Tyr2108Cys | |
| XM_005262157.3:c.6284A>G | XP_005262214.2:p.Tyr2095Cys | |
| XM_006724666.2:c.6371A>G | XP_006724729.1:p.Tyr2124Cys | |
| XM_006724667.2:c.6209A>G | XP_006724730.1:p.Tyr2070Cys | |
| XR_938400.1:n.6830A>G | ||
| NM_000489.5:c.6488A>G | NP_000480.3:p.Tyr2163Cys | |
| XM_005262153.5:c.6485A>G | XP_005262210.2:p.Tyr2162Cys | |
| XM_005262154.5:c.6401A>G | XP_005262211.2:p.Tyr2134Cys | |
| XM_005262155.4:c.6371A>G | XP_005262212.2:p.Tyr2124Cys | |
| XM_005262156.4:c.6323A>G | XP_005262213.2:p.Tyr2108Cys | |
| XM_005262157.5:c.6284A>G | XP_005262214.2:p.Tyr2095Cys | |
| XM_006724666.4:c.6371A>G | XP_006724729.1:p.Tyr2124Cys | |
| XM_006724667.3:c.6209A>G | XP_006724730.1:p.Tyr2070Cys | |
| XM_017029601.2:c.6398A>G | XP_016885090.1:p.Tyr2133Cys | |
| XM_017029602.1:c.6368A>G | XP_016885091.1:p.Tyr2123Cys | |
| XM_017029603.1:c.6320A>G | XP_016885092.1:p.Tyr2107Cys | |
| XM_017029604.2:c.6287A>G | XP_016885093.1:p.Tyr2096Cys | |
| XM_017029605.1:c.6284A>G | XP_016885094.1:p.Tyr2095Cys | |
| XM_017029606.2:c.6257A>G | XP_016885095.1:p.Tyr2086Cys | |
| XM_017029607.2:c.6254A>G | XP_016885096.1:p.Tyr2085Cys | |
| XM_017029608.2:c.6206A>G | XP_016885097.1:p.Tyr2069Cys | |
| XM_017029609.1:c.6170A>G | XP_016885098.1:p.Tyr2057Cys | |
| XM_017029610.1:c.6167A>G | XP_016885099.1:p.Tyr2056Cys | |
| XM_017029611.1:c.6122A>G | XP_016885100.1:p.Tyr2041Cys | |
| XR_001755700.2:n.6787A>G | ||
| NM_138270.4:c.6374A>G | NP_612114.2:p.Tyr2125Cys | |
| NM_000489.6:c.6488A>G MANE Select | NP_000480.3:p.Tyr2163Cys | |
| NM_138270.5:c.6374A>G | NP_612114.2:p.Tyr2125Cys |