Linked Data
dbSNP Id:
rs782220913
ExAC:
X:71787569 A / G
gnomAD v2:
X-71787569-A-G
gnomAD v4:
X-72567719-A-G
COSMIC:
COSN19672036
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.72567719A>G , CM000685.2:g.72567719A>G | GRCh38 |
| NC_000023.10:g.71787569A>G , CM000685.1:g.71787569A>G | GRCh37 |
| NC_000023.9:g.71704294A>G | NCBI36 |
| NG_015851.1:g.10385T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373554.6:c.*166T>C | ENSP00000362655.1:n.*166T>C | |
| ENST00000373556.8:c.*38T>C | ENSP00000362657.3:n.*38T>C | |
| ENST00000373560.7:c.437+170T>C | ENSP00000362661.2:n.437+170T>C | |
| ENST00000373568.7:c.437+170T>C | ENSP00000362669.3:n.437+170T>C | |
| ENST00000373571.6:c.437+170T>C | ENSP00000362672.1:n.437+170T>C | |
| ENST00000373573.9:c.437+170T>C MANE Select | ENSP00000362674.3:n.437+170T>C | |
| ENST00000373583.6:c.437+170T>C | ENSP00000362685.2:n.437+170T>C | |
| ENST00000373589.9:c.164+4338T>C | ENSP00000362691.4:n.164+4338T>C | |
| ENST00000412342.6:c.*135+170T>C | ENSP00000400180.1:n.*135+170T>C | |
| ENST00000415409.6:c.437+170T>C | ENSP00000396424.2:n.437+170T>C | |
| ENST00000421523.6:c.278+170T>C | ENSP00000398997.2:n.278+170T>C | |
| ENST00000436675.6:c.437+170T>C | ENSP00000416489.1:n.437+170T>C | |
| ENST00000439122.7:c.437+170T>C | ENSP00000414486.2:n.437+170T>C | |
| ENST00000478743.2:n.523+170T>C | ||
| ENST00000647594.1:c.437+170T>C | ENSP00000496814.1:n.437+170T>C | |
| ENST00000647606.1:c.180+170T>C | ||
| ENST00000647613.1:c.*268+170T>C | ENSP00000497911.1:n.*268+170T>C | |
| ENST00000647641.1:n.524+170T>C | ||
| ENST00000647654.1:c.164+4338T>C | ENSP00000497568.1:n.164+4338T>C | |
| ENST00000647718.1:n.492+170T>C | ||
| ENST00000647859.1:c.437+170T>C | ENSP00000497530.1:n.437+170T>C | |
| ENST00000647886.1:c.437+170T>C | ENSP00000497188.1:n.437+170T>C | |
| ENST00000647974.1:c.181+170T>C | ||
| ENST00000647980.1:c.437+170T>C | ENSP00000498002.1:n.437+170T>C | |
| ENST00000648036.1:c.437+170T>C | ENSP00000496994.1:n.437+170T>C | |
| ENST00000648101.1:n.517+170T>C | ||
| ENST00000648139.1:c.437+170T>C | ENSP00000496818.1:n.437+170T>C | |
| ENST00000648285.1:n.220+4338T>C | ||
| ENST00000648298.1:c.437+170T>C | ENSP00000496866.1:n.437+170T>C | |
| ENST00000648452.1:c.437+170T>C | ENSP00000497268.1:n.437+170T>C | |
| ENST00000648459.1:c.134+170T>C | ENSP00000498072.1:n.134+170T>C | |
| ENST00000648504.1:c.374+170T>C | ENSP00000497668.1:n.374+170T>C | |
| ENST00000648577.1:c.437+170T>C | ENSP00000497552.1:n.437+170T>C | |
| ENST00000648711.1:c.62+4338T>C | ENSP00000498040.1:n.62+4338T>C | |
| ENST00000648731.1:c.357+170T>C | ||
| ENST00000648834.1:c.437+170T>C | ENSP00000497764.1:n.437+170T>C | |
| ENST00000648855.1:n.361+170T>C | ||
| ENST00000648870.1:c.437+170T>C | ENSP00000497599.1:n.437+170T>C | |
| ENST00000648922.1:c.437+170T>C | ENSP00000497072.1:n.437+170T>C | |
| ENST00000648939.1:c.437+170T>C | ENSP00000497442.1:n.437+170T>C | |
| ENST00000648962.1:c.437+170T>C | ENSP00000497516.1:n.437+170T>C | |
| ENST00000649097.1:c.437+170T>C | ENSP00000497551.1:n.437+170T>C | |
| ENST00000649116.1:c.437+170T>C | ENSP00000497925.1:n.437+170T>C | |
| ENST00000649181.1:c.437+170T>C | ENSP00000498150.1:n.437+170T>C | |
| ENST00000649242.1:c.437+170T>C | ENSP00000497943.1:n.437+170T>C | |
| ENST00000649274.1:c.375+170T>C | ENSP00000497032.1:n.375+170T>C | |
| ENST00000649518.1:c.437+170T>C | ENSP00000498169.1:n.437+170T>C | |
| ENST00000649543.1:c.437+170T>C | ENSP00000496826.1:n.437+170T>C | |
| ENST00000649752.1:c.164+4338T>C | ENSP00000497267.1:n.164+4338T>C | |
| ENST00000650126.1:c.437+170T>C | ENSP00000498144.1:n.437+170T>C | |
| ENST00000650471.1:c.295+1035T>C | ENSP00000498027.1:n.295+1035T>C | |
| ENST00000650604.1:c.164+4338T>C | ENSP00000497105.1:n.164+4338T>C | |
| ENST00000650636.1:c.437+170T>C | ENSP00000497191.1:n.437+170T>C | |
| ENST00000373554.5:c.*166T>C | ENSP00000362655.1:n.*166T>C | |
| ENST00000373556.7:c.*38T>C | ENSP00000362657.3:n.*38T>C | |
| ENST00000373559.8:c.164+4338T>C | ENSP00000362660.4:n.164+4338T>C | |
| ENST00000373560.6:c.437+170T>C | ENSP00000362661.2:n.437+170T>C | |
| ENST00000373568.6:c.164+4338T>C | ENSP00000362669.2:n.164+4338T>C | |
| ENST00000373571.5:c.437+170T>C | ENSP00000362672.1:n.437+170T>C | |
| ENST00000373573.7:c.437+170T>C | ENSP00000362674.3:n.437+170T>C | |
| ENST00000373583.5:c.164+4338T>C | ENSP00000362685.1:n.164+4338T>C | |
| ENST00000373589.8:c.164+4338T>C | ENSP00000362691.4:n.164+4338T>C | |
| ENST00000412342.5:c.*135+170T>C | ENSP00000400180.1:n.*135+170T>C | |
| ENST00000415409.5:c.437+170T>C | ENSP00000396424.1:n.437+170T>C | |
| ENST00000421523.5:c.320+170T>C | ENSP00000398997.1:n.320+170T>C | |
| ENST00000436675.5:c.437+170T>C | ENSP00000416489.1:n.437+170T>C | |
| ENST00000439122.6:c.437+170T>C | ENSP00000414486.2:n.437+170T>C | |
| ENST00000478743.1:n.377+1035T>C | ||
| NM_001166418.1:c.164+4338T>C | NP_001159890.1:n.164+4338T>C | |
| NM_001166419.1:c.437+170T>C | NP_001159891.1:n.437+170T>C | |
| NM_001166420.1:c.*166T>C | NP_001159892.1:n.*166T>C | |
| NM_001166422.1:c.*38T>C | NP_001159894.1:n.*38T>C | |
| NM_001166448.1:c.164+4338T>C | NP_001159920.1:n.164+4338T>C | |
| NM_018486.2:c.437+170T>C | NP_060956.1:n.437+170T>C | |
| NR_051952.1:n.637+1035T>C | ||
| XM_011530986.1:c.437+170T>C | XP_011529288.1:n.437+170T>C | |
| XM_011530987.1:c.437+170T>C | XP_011529289.1:n.437+170T>C | |
| XM_011530988.1:c.437+170T>C | XP_011529290.1:n.437+170T>C | |
| XR_938402.1:n.523+170T>C | ||
| XM_011530986.3:c.437+170T>C | XP_011529288.3:n.437+170T>C | |
| XM_017029640.2:c.437+170T>C | XP_016885129.2:n.437+170T>C | |
| XM_017029641.2:c.437+170T>C | XP_016885130.2:n.437+170T>C | |
| XM_017029642.1:c.278+4338T>C | XP_016885131.1:n.278+4338T>C | |
| XM_017029643.2:c.551+170T>C | XP_016885132.1:n.551+170T>C | |
| XM_017029644.2:c.278+4338T>C | XP_016885133.1:n.278+4338T>C | |
| XM_017029645.2:c.551+170T>C | XP_016885134.1:n.551+170T>C | |
| XM_017029646.1:c.50+170T>C | XP_016885135.1:n.50+170T>C | |
| XM_017029647.2:c.437+170T>C | XP_016885136.2:n.437+170T>C | |
| XM_024452405.1:c.-335+170T>C | XP_024308173.1:n.-335+170T>C | |
| XR_001755711.2:n.523+170T>C | ||
| XR_002958779.1:n.523+170T>C | ||
| XR_002958780.1:n.523+170T>C | ||
| XR_002958781.1:n.523+170T>C | ||
| XR_002958782.1:n.499+4338T>C | ||
| XR_002958783.1:n.499+4338T>C | ||
| XR_938402.3:n.523+170T>C | ||
| NM_018486.3:c.437+170T>C MANE Select | NP_060956.1:n.437+170T>C | |
| NM_001166418.2:c.164+4338T>C | NP_001159890.1:n.164+4338T>C | |
| NM_001166419.2:c.437+170T>C | NP_001159891.1:n.437+170T>C | |
| NM_001166422.2:c.*38T>C | NP_001159894.1:n.*38T>C | |
| NM_001166448.2:c.164+4338T>C | NP_001159920.1:n.164+4338T>C | |
| NR_051952.2:n.377+1035T>C | ||
| NM_001166420.2:c.*166T>C | NP_001159892.1:n.*166T>C |