Linked Data
ClinVar Variation Id:
3004121
ClinVar RCV Id:
RCV003865760
dbSNP Id:
rs782048506
ExAC:
X:71715057 G / A
gnomAD v2:
X-71715057-G-A
gnomAD v3:
X-72495207-G-A
gnomAD v4:
X-72495207-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.72495207G>A , CM000685.2:g.72495207G>A | GRCh38 |
| NC_000023.10:g.71715057G>A , CM000685.1:g.71715057G>A | GRCh37 |
| NC_000023.9:g.71631782G>A | NCBI36 |
| NG_015851.1:g.82897C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373560.7:c.438-20478C>T | ENSP00000362661.2:n.438-20478C>T | |
| ENST00000373568.7:c.499C>T | ENSP00000362669.3:p.Arg167Trp | |
| ENST00000373571.6:c.499C>T | ENSP00000362672.1:p.Arg167Trp | |
| ENST00000373573.9:c.499C>T MANE Select | ENSP00000362674.3:p.Arg167Trp | |
| ENST00000373583.6:c.499C>T | ENSP00000362685.2:p.Arg167Trp | |
| ENST00000373589.9:c.226C>T | ENSP00000362691.4:p.Arg76Trp | |
| ENST00000412342.6:c.*197C>T | ENSP00000400180.1:n.*197C>T | |
| ENST00000415409.6:c.499C>T | ENSP00000396424.2:p.Arg167Trp | |
| ENST00000421523.6:c.340C>T | ENSP00000398997.2:p.Arg114Trp | |
| ENST00000436675.6:c.499C>T | ENSP00000416489.1:p.Arg167Trp | |
| ENST00000439122.7:c.499C>T | ENSP00000414486.2:p.Arg167Trp | |
| ENST00000478743.2:n.585C>T | ||
| ENST00000647594.1:c.499C>T | ENSP00000496814.1:p.Arg167Trp | |
| ENST00000647606.1:c.274C>T | ||
| ENST00000647613.1:c.*330C>T | ENSP00000497911.1:n.*330C>T | |
| ENST00000647641.1:n.586C>T | ||
| ENST00000647654.1:c.226C>T | ENSP00000497568.1:p.Arg76Trp | |
| ENST00000647718.1:n.554C>T | ||
| ENST00000647859.1:c.499C>T | ENSP00000497530.1:p.Arg167Trp | |
| ENST00000647886.1:c.499C>T | ENSP00000497188.1:p.Arg167Trp | |
| ENST00000647974.1:c.243C>T | ||
| ENST00000647980.1:c.499C>T | ENSP00000498002.1:p.Arg167Trp | |
| ENST00000648036.1:c.499C>T | ENSP00000496994.1:p.Arg167Trp | |
| ENST00000648101.1:n.579C>T | ||
| ENST00000648139.1:c.438-30476C>T | ENSP00000496818.1:n.438-30476C>T | |
| ENST00000648285.1:n.282C>T | ||
| ENST00000648298.1:c.499C>T | ENSP00000496866.1:p.Arg167Trp | |
| ENST00000648452.1:c.499C>T | ENSP00000497268.1:p.Arg167Trp | |
| ENST00000648459.1:c.135-30476C>T | ENSP00000498072.1:n.135-30476C>T | |
| ENST00000648504.1:c.436C>T | ENSP00000497668.1:p.Arg146Trp | |
| ENST00000648577.1:c.499C>T | ENSP00000497552.1:p.Arg167Trp | |
| ENST00000648711.1:c.124C>T | ENSP00000498040.1:p.Arg42Trp | |
| ENST00000648731.1:c.419C>T | ||
| ENST00000648834.1:c.499C>T | ENSP00000497764.1:p.Arg167Trp | |
| ENST00000648855.1:n.423C>T | ||
| ENST00000648870.1:c.499C>T | ENSP00000497599.1:p.Arg167Trp | |
| ENST00000648922.1:c.499C>T | ENSP00000497072.1:p.Arg167Trp | |
| ENST00000648939.1:c.499C>T | ENSP00000497442.1:p.Arg167Trp | |
| ENST00000648962.1:c.499C>T | ENSP00000497516.1:p.Arg167Trp | |
| ENST00000649097.1:c.499C>T | ENSP00000497551.1:p.Arg167Trp | |
| ENST00000649116.1:c.*56C>T | ENSP00000497925.1:n.*56C>T | |
| ENST00000649181.1:c.438-4201C>T | ENSP00000498150.1:n.438-4201C>T | |
| ENST00000649242.1:c.499C>T | ENSP00000497943.1:p.Arg167Trp | |
| ENST00000649274.1:c.437C>T | ENSP00000497032.1:n.437C>T | |
| ENST00000649518.1:c.499C>T | ENSP00000498169.1:p.Arg167Trp | |
| ENST00000649543.1:c.499C>T | ENSP00000496826.1:p.Arg167Trp | |
| ENST00000649752.1:c.226C>T | ENSP00000497267.1:p.Arg76Trp | |
| ENST00000650126.1:c.499C>T | ENSP00000498144.1:p.Arg167Trp | |
| ENST00000650471.1:c.357C>T | ENSP00000498027.1:p.Asp119= | |
| ENST00000650604.1:c.165-30476C>T | ENSP00000497105.1:n.165-30476C>T | |
| ENST00000373559.8:c.226C>T | ENSP00000362660.4:p.Arg76Trp | |
| ENST00000373560.6:c.438-20478C>T | ENSP00000362661.2:n.438-20478C>T | |
| ENST00000373568.6:c.226C>T | ENSP00000362669.2:p.Arg76Trp | |
| ENST00000373571.5:c.499C>T | ENSP00000362672.1:p.Arg167Trp | |
| ENST00000373573.7:c.499C>T | ENSP00000362674.3:p.Arg167Trp | |
| ENST00000373583.5:c.164+76850C>T | ENSP00000362685.1:n.164+76850C>T | |
| ENST00000373589.8:c.226C>T | ENSP00000362691.4:p.Arg76Trp | |
| ENST00000412342.5:c.*197C>T | ENSP00000400180.1:n.*197C>T | |
| ENST00000415409.5:c.499C>T | ENSP00000396424.1:p.Arg167Trp | |
| ENST00000421523.5:c.382C>T | ENSP00000398997.1:p.Arg128Trp | |
| ENST00000436675.5:c.499C>T | ENSP00000416489.1:p.Arg167Trp | |
| ENST00000439122.6:c.499C>T | ENSP00000414486.2:p.Arg167Trp | |
| ENST00000478743.1:n.439C>T | ||
| NM_001166418.1:c.226C>T | NP_001159890.1:p.Arg76Trp | |
| NM_001166419.1:c.499C>T | NP_001159891.1:p.Arg167Trp | |
| NM_001166448.1:c.226C>T | NP_001159920.1:p.Arg76Trp | |
| NM_018486.2:c.499C>T | NP_060956.1:p.Arg167Trp | |
| NR_051952.1:n.699C>T | ||
| XM_011530986.1:c.499C>T | XP_011529288.1:p.Arg167Trp | |
| XM_011530987.1:c.499C>T | XP_011529289.1:p.Arg167Trp | |
| XM_011530988.1:c.499C>T | XP_011529290.1:p.Arg167Trp | |
| XR_938402.1:n.585C>T | ||
| XM_011530986.3:c.499C>T | XP_011529288.3:p.Arg167Trp | |
| XM_017029640.2:c.499C>T | XP_016885129.2:p.Arg167Trp | |
| XM_017029641.2:c.499C>T | XP_016885130.2:p.Arg167Trp | |
| XM_017029642.1:c.340C>T | XP_016885131.1:p.Arg114Trp | |
| XM_017029643.2:c.552-30476C>T | XP_016885132.1:n.552-30476C>T | |
| XM_017029644.2:c.340C>T | XP_016885133.1:p.Arg114Trp | |
| XM_017029645.2:c.552-30476C>T | XP_016885134.1:n.552-30476C>T | |
| XM_017029646.1:c.112C>T | XP_016885135.1:p.Arg38Trp | |
| XM_017029647.2:c.499C>T | XP_016885136.2:p.Arg167Trp | |
| XM_024452405.1:c.-273C>T | XP_024308173.1:n.-273C>T | |
| XR_001755711.2:n.585C>T | ||
| XR_002958779.1:n.585C>T | ||
| XR_002958780.1:n.585C>T | ||
| XR_002958781.1:n.585C>T | ||
| XR_002958782.1:n.561C>T | ||
| XR_002958783.1:n.561C>T | ||
| XR_938402.3:n.585C>T | ||
| NM_018486.3:c.499C>T MANE Select | NP_060956.1:p.Arg167Trp | |
| NM_001166418.2:c.226C>T | NP_001159890.1:p.Arg76Trp | |
| NM_001166419.2:c.499C>T | NP_001159891.1:p.Arg167Trp | |
| NM_001166448.2:c.226C>T | NP_001159920.1:p.Arg76Trp | |
| NR_051952.2:n.439C>T |