Linked Data
ClinVar Variation Id:
39712
dbSNP Id:
rs397515417
ExAC:
X:71681927 G / A
gnomAD v2:
X-71681927-G-A
gnomAD v4:
X-72462077-G-A
COSMIC:
COSM458027
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.72462077G>A , CM000685.2:g.72462077G>A | GRCh38 |
| NC_000023.10:g.71681927G>A , CM000685.1:g.71681927G>A | GRCh37 |
| NC_000023.9:g.71598652G>A | NCBI36 |
| NG_015851.1:g.116027C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373568.7:c.932C>T | ENSP00000362669.3:p.Thr311Met | |
| ENST00000373573.9:c.932C>T MANE Select | ENSP00000362674.3:p.Thr311Met | |
| ENST00000373583.6:c.854C>T | ENSP00000362685.2:p.Thr285Met | |
| ENST00000373589.9:c.659C>T | ENSP00000362691.4:p.Thr220Met | |
| ENST00000415409.6:c.932C>T | ENSP00000396424.2:p.Thr311Met | |
| ENST00000436675.6:c.*187C>T | ENSP00000416489.1:n.*187C>T | |
| ENST00000470998.2:c.109C>T | ||
| ENST00000478743.2:n.1015C>T | ||
| ENST00000647594.1:c.932C>T | ENSP00000496814.1:p.Thr311Met | |
| ENST00000647606.1:c.707C>T | ||
| ENST00000647613.1:c.*685C>T | ENSP00000497911.1:n.*685C>T | |
| ENST00000647641.1:n.1019C>T | ||
| ENST00000647654.1:c.659C>T | ENSP00000497568.1:p.Thr220Met | |
| ENST00000647718.1:n.3447C>T | ||
| ENST00000647859.1:c.932C>T | ENSP00000497530.1:p.Thr311Met | |
| ENST00000647886.1:c.932C>T | ENSP00000497188.1:p.Thr311Met | |
| ENST00000647980.1:c.926C>T | ENSP00000498002.1:p.Thr309Met | |
| ENST00000648139.1:c.632C>T | ENSP00000496818.1:p.Thr211Met | |
| ENST00000648276.1:c.176C>T | ENSP00000497619.1:p.Thr59Met | |
| ENST00000648298.1:c.932C>T | ENSP00000496866.1:p.Thr311Met | |
| ENST00000648452.1:c.932C>T | ENSP00000497268.1:p.Thr311Met | |
| ENST00000648459.1:c.329C>T | ENSP00000498072.1:p.Thr110Met | |
| ENST00000648504.1:c.873C>T | ENSP00000497668.1:n.873C>T | |
| ENST00000648711.1:c.561C>T | ENSP00000498040.1:n.561C>T | |
| ENST00000648731.1:c.1038C>T | ||
| ENST00000648834.1:c.*12C>T | ENSP00000497764.1:n.*12C>T | |
| ENST00000648850.1:c.571C>T | ||
| ENST00000648855.1:n.856C>T | ||
| ENST00000648870.1:c.932C>T | ENSP00000497599.1:p.Thr311Met | |
| ENST00000648922.1:c.932C>T | ENSP00000497072.1:p.Thr311Met | |
| ENST00000648939.1:c.*12C>T | ENSP00000497442.1:n.*12C>T | |
| ENST00000649097.1:c.932C>T | ENSP00000497551.1:p.Thr311Met | |
| ENST00000649116.1:c.*489C>T | ENSP00000497925.1:n.*489C>T | |
| ENST00000649181.1:c.*294C>T | ENSP00000498150.1:n.*294C>T | |
| ENST00000649242.1:c.*617C>T | ENSP00000497943.1:n.*617C>T | |
| ENST00000649274.1:c.870C>T | ENSP00000497032.1:n.870C>T | |
| ENST00000649518.1:c.*536C>T | ENSP00000498169.1:n.*536C>T | |
| ENST00000649543.1:c.*536C>T | ENSP00000496826.1:n.*536C>T | |
| ENST00000649752.1:c.659C>T | ENSP00000497267.1:p.Thr220Met | |
| ENST00000650076.1:c.211+26856C>T | ||
| ENST00000650471.1:c.*376C>T | ENSP00000498027.1:n.*376C>T | |
| ENST00000650604.1:c.359C>T | ENSP00000497105.1:p.Thr120Met | |
| ENST00000373568.6:c.659C>T | ENSP00000362669.2:p.Thr220Met | |
| ENST00000373573.7:c.932C>T | ENSP00000362674.3:p.Thr311Met | |
| ENST00000373583.5:c.164+109980C>T | ENSP00000362685.1:n.164+109980C>T | |
| ENST00000373589.8:c.659C>T | ENSP00000362691.4:p.Thr220Met | |
| ENST00000415409.5:c.854C>T | ENSP00000396424.1:p.Thr285Met | |
| ENST00000436675.5:c.*187C>T | ENSP00000416489.1:n.*187C>T | |
| ENST00000470998.1:n.105C>T | ||
| NM_001166418.1:c.659C>T | NP_001159890.1:p.Thr220Met | |
| NM_018486.2:c.932C>T | NP_060956.1:p.Thr311Met | |
| NR_051952.1:n.1132C>T | ||
| XM_011530986.1:c.932C>T | XP_011529288.1:p.Thr311Met | |
| XM_011530987.1:c.932C>T | XP_011529289.1:p.Thr311Met | |
| XM_011530988.1:c.932C>T | XP_011529290.1:p.Thr311Met | |
| XR_938402.1:n.1018C>T | ||
| XM_011530986.3:c.932C>T | XP_011529288.3:p.Thr311Met | |
| XM_017029640.2:c.854C>T | XP_016885129.2:p.Thr285Met | |
| XM_017029641.2:c.854C>T | XP_016885130.2:p.Thr285Met | |
| XM_017029642.1:c.773C>T | XP_016885131.1:p.Thr258Met | |
| XM_017029643.2:c.746C>T | XP_016885132.1:p.Thr249Met | |
| XM_017029644.2:c.695C>T | XP_016885133.1:p.Thr232Met | |
| XM_017029645.2:c.746C>T | XP_016885134.1:p.Thr249Met | |
| XM_017029646.1:c.545C>T | XP_016885135.1:p.Thr182Met | |
| XM_024452405.1:c.347C>T | XP_024308173.1:p.Thr116Met | |
| XR_001755711.2:n.1018C>T | ||
| XR_002958779.1:n.1018C>T | ||
| XR_002958780.1:n.1022C>T | ||
| XR_002958781.1:n.1022C>T | ||
| XR_002958782.1:n.3191C>T | ||
| XR_002958783.1:n.998C>T | ||
| XR_938402.3:n.1018C>T | ||
| NM_018486.3:c.932C>T MANE Select | NP_060956.1:p.Thr311Met | |
| NM_001166418.2:c.659C>T | NP_001159890.1:p.Thr220Met | |
| NR_051952.2:n.872C>T |