Linked Data
dbSNP Id:
rs1216156653
gnomAD v4:
X-72464444-C-A
MyVariant Identifiers:
chrX:g.72464444C>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.72464444C>A , CM000685.2:g.72464444C>A | GRCh38 |
| NC_000023.10:g.71684294C>A , CM000685.1:g.71684294C>A | GRCh37 |
| NC_000023.9:g.71601019C>A | NCBI36 |
| NG_015851.1:g.113660G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373568.7:c.910+115G>T | ENSP00000362669.3:n.910+115G>T | |
| ENST00000373573.9:c.910+115G>T MANE Select | ENSP00000362674.3:n.910+115G>T | |
| ENST00000373583.6:c.832+115G>T | ENSP00000362685.2:n.832+115G>T | |
| ENST00000373589.9:c.637+115G>T | ENSP00000362691.4:n.637+115G>T | |
| ENST00000415409.6:c.910+115G>T | ENSP00000396424.2:n.910+115G>T | |
| ENST00000436675.6:c.*165+115G>T | ENSP00000416489.1:n.*165+115G>T | |
| ENST00000470998.2:c.6+115G>T | ||
| ENST00000478743.2:n.996+115G>T | ||
| ENST00000647594.1:c.910+115G>T | ENSP00000496814.1:n.910+115G>T | |
| ENST00000647606.1:c.685+115G>T | ||
| ENST00000647613.1:c.*663+115G>T | ENSP00000497911.1:n.*663+115G>T | |
| ENST00000647641.1:n.997+115G>T | ||
| ENST00000647654.1:c.637+115G>T | ENSP00000497568.1:n.637+115G>T | |
| ENST00000647718.1:n.1080G>T | ||
| ENST00000647859.1:c.910+115G>T | ENSP00000497530.1:n.910+115G>T | |
| ENST00000647886.1:c.910+115G>T | ENSP00000497188.1:n.910+115G>T | |
| ENST00000647980.1:c.904+115G>T | ENSP00000498002.1:n.904+115G>T | |
| ENST00000648139.1:c.610+115G>T | ENSP00000496818.1:n.610+115G>T | |
| ENST00000648276.1:c.154+115G>T | ENSP00000497619.1:n.154+115G>T | |
| ENST00000648285.1:n.808G>T | ||
| ENST00000648298.1:c.910+115G>T | ENSP00000496866.1:n.910+115G>T | |
| ENST00000648452.1:c.910+115G>T | ENSP00000497268.1:n.910+115G>T | |
| ENST00000648459.1:c.307+115G>T | ENSP00000498072.1:n.307+115G>T | |
| ENST00000648504.1:c.847+115G>T | ENSP00000497668.1:n.847+115G>T | |
| ENST00000648711.1:c.535+115G>T | ENSP00000498040.1:n.535+115G>T | |
| ENST00000648731.1:c.1016+115G>T | ||
| ENST00000648834.1:c.910+115G>T | ENSP00000497764.1:n.910+115G>T | |
| ENST00000648850.1:c.545+115G>T | ||
| ENST00000648855.1:n.834+115G>T | ||
| ENST00000648870.1:c.910+115G>T | ENSP00000497599.1:n.910+115G>T | |
| ENST00000648922.1:c.910+115G>T | ENSP00000497072.1:n.910+115G>T | |
| ENST00000648939.1:c.910+115G>T | ENSP00000497442.1:n.910+115G>T | |
| ENST00000649097.1:c.910+115G>T | ENSP00000497551.1:n.910+115G>T | |
| ENST00000649116.1:c.*467+115G>T | ENSP00000497925.1:n.*467+115G>T | |
| ENST00000649181.1:c.*272+115G>T | ENSP00000498150.1:n.*272+115G>T | |
| ENST00000649242.1:c.*514+115G>T | ENSP00000497943.1:n.*514+115G>T | |
| ENST00000649274.1:c.848+115G>T | ENSP00000497032.1:n.848+115G>T | |
| ENST00000649518.1:c.*514+115G>T | ENSP00000498169.1:n.*514+115G>T | |
| ENST00000649543.1:c.*514+115G>T | ENSP00000496826.1:n.*514+115G>T | |
| ENST00000649752.1:c.637+115G>T | ENSP00000497267.1:n.637+115G>T | |
| ENST00000650076.1:c.211+24489G>T | ||
| ENST00000650471.1:c.*354+115G>T | ENSP00000498027.1:n.*354+115G>T | |
| ENST00000650604.1:c.337+115G>T | ENSP00000497105.1:n.337+115G>T | |
| ENST00000373568.6:c.637+115G>T | ENSP00000362669.2:n.637+115G>T | |
| ENST00000373573.7:c.910+115G>T | ENSP00000362674.3:n.910+115G>T | |
| ENST00000373583.5:c.164+107613G>T | ENSP00000362685.1:n.164+107613G>T | |
| ENST00000373589.8:c.637+115G>T | ENSP00000362691.4:n.637+115G>T | |
| ENST00000415409.5:c.832+115G>T | ENSP00000396424.1:n.832+115G>T | |
| ENST00000436675.5:c.*165+115G>T | ENSP00000416489.1:n.*165+115G>T | |
| NM_001166418.1:c.637+115G>T | NP_001159890.1:n.637+115G>T | |
| NM_018486.2:c.910+115G>T | NP_060956.1:n.910+115G>T | |
| NR_051952.1:n.1110+115G>T | ||
| XM_011530986.1:c.910+115G>T | XP_011529288.1:n.910+115G>T | |
| XM_011530987.1:c.910+115G>T | XP_011529289.1:n.910+115G>T | |
| XM_011530988.1:c.910+115G>T | XP_011529290.1:n.910+115G>T | |
| XR_938402.1:n.996+115G>T | ||
| XM_011530986.3:c.910+115G>T | XP_011529288.3:n.910+115G>T | |
| XM_017029640.2:c.832+115G>T | XP_016885129.2:n.832+115G>T | |
| XM_017029641.2:c.832+115G>T | XP_016885130.2:n.832+115G>T | |
| XM_017029642.1:c.751+115G>T | XP_016885131.1:n.751+115G>T | |
| XM_017029643.2:c.724+115G>T | XP_016885132.1:n.724+115G>T | |
| XM_017029644.2:c.673+115G>T | XP_016885133.1:n.673+115G>T | |
| XM_017029645.2:c.724+115G>T | XP_016885134.1:n.724+115G>T | |
| XM_017029646.1:c.523+115G>T | XP_016885135.1:n.523+115G>T | |
| XM_024452405.1:c.325+115G>T | XP_024308173.1:n.325+115G>T | |
| XR_001755711.2:n.996+115G>T | ||
| XR_002958779.1:n.996+115G>T | ||
| XR_002958780.1:n.996+115G>T | ||
| XR_002958781.1:n.996+115G>T | ||
| XR_002958782.1:n.1087G>T | ||
| XR_002958783.1:n.972+115G>T | ||
| XR_938402.3:n.996+115G>T | ||
| NM_018486.3:c.910+115G>T MANE Select | NP_060956.1:n.910+115G>T | |
| NM_001166418.2:c.637+115G>T | NP_001159890.1:n.637+115G>T | |
| NR_051952.2:n.850+115G>T |