Linked Data
ClinVar Variation Id:
1637725
ClinVar RCV Id:
RCV002133568
dbSNP Id:
rs2147648859
MyVariant Identifiers:
chrX:g.76763961A>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.77508483A>C , CM000685.2:g.77508483A>C | GRCh38 |
| NC_000023.10:g.76763961A>C , CM000685.1:g.76763961A>C | GRCh37 |
| NC_000023.9:g.76650617A>C | NCBI36 |
| NG_008838.2:g.282739T>G | |
| NG_008838.3:g.282787T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373344.11:c.7347T>G MANE Select | ENSP00000362441.4:p.Ser2449= | |
| ENST00000675732.1:c.2445T>G | ENSP00000502598.1:p.Ser815= | |
| ENST00000373344.9:c.7347T>G | ENSP00000362441.4:p.Ser2449= | |
| ENST00000395603.7:c.7233T>G | ENSP00000378967.3:p.Ser2411= | |
| ENST00000480283.5:c.*6975T>G | ENSP00000480196.1:n.*6975T>G | |
| ENST00000623706.3:n.5667T>G | ||
| ENST00000624766.1:n.578T>G | ||
| NM_000489.4:c.7347T>G | NP_000480.3:p.Ser2449= | |
| NM_138270.3:c.7233T>G | NP_612114.2:p.Ser2411= | |
| XM_005262153.3:c.7344T>G | XP_005262210.2:p.Ser2448= | |
| XM_005262154.3:c.7260T>G | XP_005262211.2:p.Ser2420= | |
| XM_005262155.3:c.7230T>G | XP_005262212.2:p.Ser2410= | |
| XM_005262156.3:c.7182T>G | XP_005262213.2:p.Ser2394= | |
| XM_005262157.3:c.7143T>G | XP_005262214.2:p.Ser2381= | |
| XM_006724666.2:c.7230T>G | XP_006724729.1:p.Ser2410= | |
| XM_006724667.2:c.7068T>G | XP_006724730.1:p.Ser2356= | |
| XR_938400.1:n.8939T>G | ||
| NM_000489.5:c.7347T>G | NP_000480.3:p.Ser2449= | |
| XM_005262153.5:c.7344T>G | XP_005262210.2:p.Ser2448= | |
| XM_005262154.5:c.7260T>G | XP_005262211.2:p.Ser2420= | |
| XM_005262155.4:c.7230T>G | XP_005262212.2:p.Ser2410= | |
| XM_005262156.4:c.7182T>G | XP_005262213.2:p.Ser2394= | |
| XM_005262157.5:c.7143T>G | XP_005262214.2:p.Ser2381= | |
| XM_006724666.4:c.7230T>G | XP_006724729.1:p.Ser2410= | |
| XM_006724667.3:c.7068T>G | XP_006724730.1:p.Ser2356= | |
| XM_017029601.2:c.7257T>G | XP_016885090.1:p.Ser2419= | |
| XM_017029602.1:c.7227T>G | XP_016885091.1:p.Ser2409= | |
| XM_017029603.1:c.7179T>G | XP_016885092.1:p.Ser2393= | |
| XM_017029604.2:c.7146T>G | XP_016885093.1:p.Ser2382= | |
| XM_017029605.1:c.7143T>G | XP_016885094.1:p.Ser2381= | |
| XM_017029606.2:c.7116T>G | XP_016885095.1:p.Ser2372= | |
| XM_017029607.2:c.7113T>G | XP_016885096.1:p.Ser2371= | |
| XM_017029608.2:c.7065T>G | XP_016885097.1:p.Ser2355= | |
| XM_017029609.1:c.7029T>G | XP_016885098.1:p.Ser2343= | |
| XM_017029610.1:c.7026T>G | XP_016885099.1:p.Ser2342= | |
| XM_017029611.1:c.6981T>G | XP_016885100.1:p.Ser2327= | |
| XR_001755700.2:n.7646T>G | ||
| NM_138270.4:c.7233T>G | NP_612114.2:p.Ser2411= | |
| NM_000489.6:c.7347T>G MANE Select | NP_000480.3:p.Ser2449= | |
| NM_138270.5:c.7233T>G | NP_612114.2:p.Ser2411= |