Linked Data
ClinVar Variation Id:
1090913
ClinVar RCV Id:
RCV001410205
dbSNP Id:
rs2148019980
gnomAD v4:
X-77574333-A-T
MyVariant Identifiers:
chrX:g.76829798A>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.77574333A>T , CM000685.2:g.77574333A>T | GRCh38 |
| NC_000023.10:g.76829798A>T , CM000685.1:g.76829798A>T | GRCh37 |
| NC_000023.9:g.76716454A>T | NCBI36 |
| NG_008838.2:g.216889T>A | |
| NG_008838.3:g.216937T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373344.11:c.6243T>A MANE Select | ENSP00000362441.4:p.Ile2081= | |
| ENST00000636152.1:n.78T>A | ||
| ENST00000675732.1:c.1341T>A | ENSP00000502598.1:p.Ile447= | |
| ENST00000373344.9:c.6243T>A | ENSP00000362441.4:p.Ile2081= | |
| ENST00000395603.7:c.6129T>A | ENSP00000378967.3:p.Ile2043= | |
| ENST00000480283.5:c.*5871T>A | ENSP00000480196.1:n.*5871T>A | |
| ENST00000623316.1:c.727T>A | ||
| ENST00000623706.3:n.3313T>A | ||
| NM_000489.4:c.6243T>A | NP_000480.3:p.Ile2081= | |
| NM_138270.3:c.6129T>A | NP_612114.2:p.Ile2043= | |
| XM_005262153.3:c.6240T>A | XP_005262210.2:p.Ile2080= | |
| XM_005262154.3:c.6156T>A | XP_005262211.2:p.Ile2052= | |
| XM_005262155.3:c.6126T>A | XP_005262212.2:p.Ile2042= | |
| XM_005262156.3:c.6078T>A | XP_005262213.2:p.Ile2026= | |
| XM_005262157.3:c.6039T>A | XP_005262214.2:p.Ile2013= | |
| XM_006724666.2:c.6126T>A | XP_006724729.1:p.Ile2042= | |
| XM_006724667.2:c.5964T>A | XP_006724730.1:p.Ile1988= | |
| XR_938400.1:n.6585T>A | ||
| NM_000489.5:c.6243T>A | NP_000480.3:p.Ile2081= | |
| XM_005262153.5:c.6240T>A | XP_005262210.2:p.Ile2080= | |
| XM_005262154.5:c.6156T>A | XP_005262211.2:p.Ile2052= | |
| XM_005262155.4:c.6126T>A | XP_005262212.2:p.Ile2042= | |
| XM_005262156.4:c.6078T>A | XP_005262213.2:p.Ile2026= | |
| XM_005262157.5:c.6039T>A | XP_005262214.2:p.Ile2013= | |
| XM_006724666.4:c.6126T>A | XP_006724729.1:p.Ile2042= | |
| XM_006724667.3:c.5964T>A | XP_006724730.1:p.Ile1988= | |
| XM_017029601.2:c.6153T>A | XP_016885090.1:p.Ile2051= | |
| XM_017029602.1:c.6123T>A | XP_016885091.1:p.Ile2041= | |
| XM_017029603.1:c.6075T>A | XP_016885092.1:p.Ile2025= | |
| XM_017029604.2:c.6042T>A | XP_016885093.1:p.Ile2014= | |
| XM_017029605.1:c.6039T>A | XP_016885094.1:p.Ile2013= | |
| XM_017029606.2:c.6012T>A | XP_016885095.1:p.Ile2004= | |
| XM_017029607.2:c.6009T>A | XP_016885096.1:p.Ile2003= | |
| XM_017029608.2:c.5961T>A | XP_016885097.1:p.Ile1987= | |
| XM_017029609.1:c.5925T>A | XP_016885098.1:p.Ile1975= | |
| XM_017029610.1:c.5922T>A | XP_016885099.1:p.Ile1974= | |
| XM_017029611.1:c.5877T>A | XP_016885100.1:p.Ile1959= | |
| XR_001755700.2:n.6542T>A | ||
| NM_138270.4:c.6129T>A | NP_612114.2:p.Ile2043= | |
| NM_000489.6:c.6243T>A MANE Select | NP_000480.3:p.Ile2081= | |
| NM_138270.5:c.6129T>A | NP_612114.2:p.Ile2043= |