Linked Data
ClinVar Variation Id:
1539169
ClinVar RCV Id:
RCV002162359
dbSNP Id:
rs1557069188
gnomAD v2:
X-76829768-A-G
gnomAD v3:
X-77574303-A-G
gnomAD v4:
X-77574303-A-G
MyVariant Identifiers:
chrX:g.76829768A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.77574303A>G , CM000685.2:g.77574303A>G | GRCh38 |
| NC_000023.10:g.76829768A>G , CM000685.1:g.76829768A>G | GRCh37 |
| NC_000023.9:g.76716424A>G | NCBI36 |
| NG_008838.2:g.216919T>C | |
| NG_008838.3:g.216967T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373344.11:c.6273T>C MANE Select | ENSP00000362441.4:p.Thr2091= | |
| ENST00000675732.1:c.1371T>C | ENSP00000502598.1:p.Thr457= | |
| ENST00000373344.9:c.6273T>C | ENSP00000362441.4:p.Thr2091= | |
| ENST00000395603.7:c.6159T>C | ENSP00000378967.3:p.Thr2053= | |
| ENST00000480283.5:c.*5901T>C | ENSP00000480196.1:n.*5901T>C | |
| ENST00000623316.1:c.757T>C | ||
| ENST00000623706.3:n.3343T>C | ||
| NM_000489.4:c.6273T>C | NP_000480.3:p.Thr2091= | |
| NM_138270.3:c.6159T>C | NP_612114.2:p.Thr2053= | |
| XM_005262153.3:c.6270T>C | XP_005262210.2:p.Thr2090= | |
| XM_005262154.3:c.6186T>C | XP_005262211.2:p.Thr2062= | |
| XM_005262155.3:c.6156T>C | XP_005262212.2:p.Thr2052= | |
| XM_005262156.3:c.6108T>C | XP_005262213.2:p.Thr2036= | |
| XM_005262157.3:c.6069T>C | XP_005262214.2:p.Thr2023= | |
| XM_006724666.2:c.6156T>C | XP_006724729.1:p.Thr2052= | |
| XM_006724667.2:c.5994T>C | XP_006724730.1:p.Thr1998= | |
| XR_938400.1:n.6615T>C | ||
| NM_000489.5:c.6273T>C | NP_000480.3:p.Thr2091= | |
| XM_005262153.5:c.6270T>C | XP_005262210.2:p.Thr2090= | |
| XM_005262154.5:c.6186T>C | XP_005262211.2:p.Thr2062= | |
| XM_005262155.4:c.6156T>C | XP_005262212.2:p.Thr2052= | |
| XM_005262156.4:c.6108T>C | XP_005262213.2:p.Thr2036= | |
| XM_005262157.5:c.6069T>C | XP_005262214.2:p.Thr2023= | |
| XM_006724666.4:c.6156T>C | XP_006724729.1:p.Thr2052= | |
| XM_006724667.3:c.5994T>C | XP_006724730.1:p.Thr1998= | |
| XM_017029601.2:c.6183T>C | XP_016885090.1:p.Thr2061= | |
| XM_017029602.1:c.6153T>C | XP_016885091.1:p.Thr2051= | |
| XM_017029603.1:c.6105T>C | XP_016885092.1:p.Thr2035= | |
| XM_017029604.2:c.6072T>C | XP_016885093.1:p.Thr2024= | |
| XM_017029605.1:c.6069T>C | XP_016885094.1:p.Thr2023= | |
| XM_017029606.2:c.6042T>C | XP_016885095.1:p.Thr2014= | |
| XM_017029607.2:c.6039T>C | XP_016885096.1:p.Thr2013= | |
| XM_017029608.2:c.5991T>C | XP_016885097.1:p.Thr1997= | |
| XM_017029609.1:c.5955T>C | XP_016885098.1:p.Thr1985= | |
| XM_017029610.1:c.5952T>C | XP_016885099.1:p.Thr1984= | |
| XM_017029611.1:c.5907T>C | XP_016885100.1:p.Thr1969= | |
| XR_001755700.2:n.6572T>C | ||
| NM_138270.4:c.6159T>C | NP_612114.2:p.Thr2053= | |
| NM_000489.6:c.6273T>C MANE Select | NP_000480.3:p.Thr2091= | |
| NM_138270.5:c.6159T>C | NP_612114.2:p.Thr2053= |