Linked Data
ClinVar Variation Id:
988759
dbSNP Id:
rs782466998
ExAC:
X:76938832 A / C
gnomAD v2:
X-76938832-A-C
gnomAD v4:
X-77683340-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.77683340A>C , CM000685.2:g.77683340A>C | GRCh38 |
| NC_000023.10:g.76938832A>C , CM000685.1:g.76938832A>C | GRCh37 |
| NC_000023.9:g.76825488A>C | NCBI36 |
| NG_008838.2:g.107882T>G | |
| NG_008838.3:g.107930T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373344.11:c.1916T>G MANE Select | ENSP00000362441.4:p.Leu639Trp | |
| ENST00000373344.9:c.1916T>G | ENSP00000362441.4:p.Leu639Trp | |
| ENST00000395603.7:c.1802T>G | ENSP00000378967.3:p.Leu601Trp | |
| ENST00000480283.5:c.*1544T>G | ENSP00000480196.1:n.*1544T>G | |
| ENST00000624032.3:c.1829T>G | ENSP00000485253.1:p.Leu610Trp | |
| ENST00000624166.3:c.1712T>G | ENSP00000485103.1:p.Leu571Trp | |
| NM_000489.4:c.1916T>G | NP_000480.3:p.Leu639Trp | |
| NM_138270.3:c.1802T>G | NP_612114.2:p.Leu601Trp | |
| XM_005262153.3:c.1913T>G | XP_005262210.2:p.Leu638Trp | |
| XM_005262154.3:c.1829T>G | XP_005262211.2:p.Leu610Trp | |
| XM_005262155.3:c.1799T>G | XP_005262212.2:p.Leu600Trp | |
| XM_005262156.3:c.1751T>G | XP_005262213.2:p.Leu584Trp | |
| XM_005262157.3:c.1712T>G | XP_005262214.2:p.Leu571Trp | |
| XM_006724666.2:c.1799T>G | XP_006724729.1:p.Leu600Trp | |
| XM_006724667.2:c.1637T>G | XP_006724730.1:p.Leu546Trp | |
| XM_006724668.2:c.1916T>G | XP_006724731.1:p.Leu639Trp | |
| XR_938400.1:n.2184T>G | ||
| NM_000489.5:c.1916T>G | NP_000480.3:p.Leu639Trp | |
| XM_005262153.5:c.1913T>G | XP_005262210.2:p.Leu638Trp | |
| XM_005262154.5:c.1829T>G | XP_005262211.2:p.Leu610Trp | |
| XM_005262155.4:c.1799T>G | XP_005262212.2:p.Leu600Trp | |
| XM_005262156.4:c.1751T>G | XP_005262213.2:p.Leu584Trp | |
| XM_005262157.5:c.1712T>G | XP_005262214.2:p.Leu571Trp | |
| XM_006724666.4:c.1799T>G | XP_006724729.1:p.Leu600Trp | |
| XM_006724667.3:c.1637T>G | XP_006724730.1:p.Leu546Trp | |
| XM_006724668.3:c.1916T>G | XP_006724731.1:p.Leu639Trp | |
| XM_017029601.2:c.1826T>G | XP_016885090.1:p.Leu609Trp | |
| XM_017029602.1:c.1796T>G | XP_016885091.1:p.Leu599Trp | |
| XM_017029603.1:c.1748T>G | XP_016885092.1:p.Leu583Trp | |
| XM_017029604.2:c.1715T>G | XP_016885093.1:p.Leu572Trp | |
| XM_017029605.1:c.1712T>G | XP_016885094.1:p.Leu571Trp | |
| XM_017029606.2:c.1685T>G | XP_016885095.1:p.Leu562Trp | |
| XM_017029607.2:c.1682T>G | XP_016885096.1:p.Leu561Trp | |
| XM_017029608.2:c.1634T>G | XP_016885097.1:p.Leu545Trp | |
| XM_017029609.1:c.1598T>G | XP_016885098.1:p.Leu533Trp | |
| XM_017029610.1:c.1595T>G | XP_016885099.1:p.Leu532Trp | |
| XM_017029611.1:c.1550T>G | XP_016885100.1:p.Leu517Trp | |
| XR_001755700.2:n.2141T>G | ||
| NM_138270.4:c.1802T>G | NP_612114.2:p.Leu601Trp | |
| NM_000489.6:c.1916T>G MANE Select | NP_000480.3:p.Leu639Trp | |
| NM_138270.5:c.1802T>G | NP_612114.2:p.Leu601Trp |