Linked Data
ClinVar Variation Id:
569922
ClinVar RCV Id:
RCV000690677
dbSNP Id:
rs782169215
ExAC:
X:76763929 T / C
gnomAD v2:
X-76763929-T-C
gnomAD v4:
X-77508451-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.77508451T>C , CM000685.2:g.77508451T>C | GRCh38 |
| NC_000023.10:g.76763929T>C , CM000685.1:g.76763929T>C | GRCh37 |
| NC_000023.9:g.76650585T>C | NCBI36 |
| NG_008838.2:g.282771A>G | |
| NG_008838.3:g.282819A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373344.11:c.7379A>G MANE Select | ENSP00000362441.4:p.Tyr2460Cys | |
| ENST00000675732.1:c.2477A>G | ENSP00000502598.1:p.Tyr826Cys | |
| ENST00000373344.9:c.7379A>G | ENSP00000362441.4:p.Tyr2460Cys | |
| ENST00000395603.7:c.7265A>G | ENSP00000378967.3:p.Tyr2422Cys | |
| ENST00000480283.5:c.*7007A>G | ENSP00000480196.1:n.*7007A>G | |
| ENST00000623706.3:n.5699A>G | ||
| NM_000489.4:c.7379A>G | NP_000480.3:p.Tyr2460Cys | |
| NM_138270.3:c.7265A>G | NP_612114.2:p.Tyr2422Cys | |
| XM_005262153.3:c.7376A>G | XP_005262210.2:p.Tyr2459Cys | |
| XM_005262154.3:c.7292A>G | XP_005262211.2:p.Tyr2431Cys | |
| XM_005262155.3:c.7262A>G | XP_005262212.2:p.Tyr2421Cys | |
| XM_005262156.3:c.7214A>G | XP_005262213.2:p.Tyr2405Cys | |
| XM_005262157.3:c.7175A>G | XP_005262214.2:p.Tyr2392Cys | |
| XM_006724666.2:c.7262A>G | XP_006724729.1:p.Tyr2421Cys | |
| XM_006724667.2:c.7100A>G | XP_006724730.1:p.Tyr2367Cys | |
| XR_938400.1:n.8971A>G | ||
| NM_000489.5:c.7379A>G | NP_000480.3:p.Tyr2460Cys | |
| XM_005262153.5:c.7376A>G | XP_005262210.2:p.Tyr2459Cys | |
| XM_005262154.5:c.7292A>G | XP_005262211.2:p.Tyr2431Cys | |
| XM_005262155.4:c.7262A>G | XP_005262212.2:p.Tyr2421Cys | |
| XM_005262156.4:c.7214A>G | XP_005262213.2:p.Tyr2405Cys | |
| XM_005262157.5:c.7175A>G | XP_005262214.2:p.Tyr2392Cys | |
| XM_006724666.4:c.7262A>G | XP_006724729.1:p.Tyr2421Cys | |
| XM_006724667.3:c.7100A>G | XP_006724730.1:p.Tyr2367Cys | |
| XM_017029601.2:c.7289A>G | XP_016885090.1:p.Tyr2430Cys | |
| XM_017029602.1:c.7259A>G | XP_016885091.1:p.Tyr2420Cys | |
| XM_017029603.1:c.7211A>G | XP_016885092.1:p.Tyr2404Cys | |
| XM_017029604.2:c.7178A>G | XP_016885093.1:p.Tyr2393Cys | |
| XM_017029605.1:c.7175A>G | XP_016885094.1:p.Tyr2392Cys | |
| XM_017029606.2:c.7148A>G | XP_016885095.1:p.Tyr2383Cys | |
| XM_017029607.2:c.7145A>G | XP_016885096.1:p.Tyr2382Cys | |
| XM_017029608.2:c.7097A>G | XP_016885097.1:p.Tyr2366Cys | |
| XM_017029609.1:c.7061A>G | XP_016885098.1:p.Tyr2354Cys | |
| XM_017029610.1:c.7058A>G | XP_016885099.1:p.Tyr2353Cys | |
| XM_017029611.1:c.7013A>G | XP_016885100.1:p.Tyr2338Cys | |
| XR_001755700.2:n.7678A>G | ||
| NM_138270.4:c.7265A>G | NP_612114.2:p.Tyr2422Cys | |
| NM_000489.6:c.7379A>G MANE Select | NP_000480.3:p.Tyr2460Cys | |
| NM_138270.5:c.7265A>G | NP_612114.2:p.Tyr2422Cys |