Linked Data
ClinVar Variation Id:
2763807
ClinVar RCV Id:
RCV003512564
MyVariant Identifiers:
chrX:g.76944341T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.77688848T>C , CM000685.2:g.77688848T>C | GRCh38 |
| NC_000023.10:g.76944341T>C , CM000685.1:g.76944341T>C | GRCh37 |
| NC_000023.9:g.76830997T>C | NCBI36 |
| NG_008838.2:g.102374A>G | |
| NG_008838.3:g.102422A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373344.11:c.564A>G MANE Select | ENSP00000362441.4:p.Arg188= | |
| ENST00000373344.9:c.564A>G | ENSP00000362441.4:p.Arg188= | |
| ENST00000395603.7:c.450A>G | ENSP00000378967.3:p.Arg150= | |
| ENST00000480283.5:c.*192A>G | ENSP00000480196.1:n.*192A>G | |
| ENST00000623321.3:c.399A>G | ENSP00000485127.1:p.Arg133= | |
| ENST00000624032.3:c.564A>G | ENSP00000485253.1:p.Arg188= | |
| ENST00000624166.3:c.447A>G | ENSP00000485103.1:p.Arg149= | |
| ENST00000624668.3:c.285A>G | ENSP00000485100.1:p.Arg95= | |
| ENST00000625063.3:c.379A>G | ||
| NM_000489.4:c.564A>G | NP_000480.3:p.Arg188= | |
| NM_138270.3:c.450A>G | NP_612114.2:p.Arg150= | |
| XM_005262153.3:c.561A>G | XP_005262210.2:p.Arg187= | |
| XM_005262154.3:c.564A>G | XP_005262211.2:p.Arg188= | |
| XM_005262155.3:c.447A>G | XP_005262212.2:p.Arg149= | |
| XM_005262156.3:c.399A>G | XP_005262213.2:p.Arg133= | |
| XM_005262157.3:c.447A>G | XP_005262214.2:p.Arg149= | |
| XM_006724666.2:c.447A>G | XP_006724729.1:p.Arg149= | |
| XM_006724667.2:c.285A>G | XP_006724730.1:p.Arg95= | |
| XM_006724668.2:c.564A>G | XP_006724731.1:p.Arg188= | |
| XR_938400.1:n.832A>G | ||
| NM_000489.5:c.564A>G | NP_000480.3:p.Arg188= | |
| XM_005262153.5:c.561A>G | XP_005262210.2:p.Arg187= | |
| XM_005262154.5:c.564A>G | XP_005262211.2:p.Arg188= | |
| XM_005262155.4:c.447A>G | XP_005262212.2:p.Arg149= | |
| XM_005262156.4:c.399A>G | XP_005262213.2:p.Arg133= | |
| XM_005262157.5:c.447A>G | XP_005262214.2:p.Arg149= | |
| XM_006724666.4:c.447A>G | XP_006724729.1:p.Arg149= | |
| XM_006724667.3:c.285A>G | XP_006724730.1:p.Arg95= | |
| XM_006724668.3:c.564A>G | XP_006724731.1:p.Arg188= | |
| XM_017029601.2:c.561A>G | XP_016885090.1:p.Arg187= | |
| XM_017029602.1:c.444A>G | XP_016885091.1:p.Arg148= | |
| XM_017029603.1:c.396A>G | XP_016885092.1:p.Arg132= | |
| XM_017029604.2:c.450A>G | XP_016885093.1:p.Arg150= | |
| XM_017029605.1:c.447A>G | XP_016885094.1:p.Arg149= | |
| XM_017029606.2:c.333A>G | XP_016885095.1:p.Arg111= | |
| XM_017029607.2:c.330A>G | XP_016885096.1:p.Arg110= | |
| XM_017029608.2:c.282A>G | XP_016885097.1:p.Arg94= | |
| XM_017029609.1:c.333A>G | XP_016885098.1:p.Arg111= | |
| XM_017029610.1:c.330A>G | XP_016885099.1:p.Arg110= | |
| XM_017029611.1:c.285A>G | XP_016885100.1:p.Arg95= | |
| XR_001755700.2:n.789A>G | ||
| NM_138270.4:c.450A>G | NP_612114.2:p.Arg150= | |
| NM_000489.6:c.564A>G MANE Select | NP_000480.3:p.Arg188= | |
| NM_138270.5:c.450A>G | NP_612114.2:p.Arg150= |