Linked Data
ClinVar Variation Id:
39714
ClinVar RCV Id:
RCV000032919
dbSNP Id:
rs397515418
PubMed:
PMID:22885700
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.72462008T>C , CM000685.2:g.72462008T>C | GRCh38 |
| NC_000023.10:g.71681858T>C , CM000685.1:g.71681858T>C | GRCh37 |
| NC_000023.9:g.71598583T>C | NCBI36 |
| NG_015851.1:g.116096A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000373568.7:c.1001A>G | ENSP00000362669.3:p.His334Arg | |
| ENST00000373573.9:c.1001A>G MANE Select | ENSP00000362674.3:p.His334Arg | |
| ENST00000373583.6:c.923A>G | ENSP00000362685.2:p.His308Arg | |
| ENST00000373589.9:c.728A>G | ENSP00000362691.4:p.His243Arg | |
| ENST00000415409.6:c.1001A>G | ENSP00000396424.2:p.His334Arg | |
| ENST00000436675.6:c.*256A>G | ENSP00000416489.1:n.*256A>G | |
| ENST00000470998.2:c.178A>G | ||
| ENST00000478743.2:n.1084A>G | ||
| ENST00000647594.1:c.1001A>G | ENSP00000496814.1:p.His334Arg | |
| ENST00000647606.1:c.776A>G | ||
| ENST00000647613.1:c.*754A>G | ENSP00000497911.1:n.*754A>G | |
| ENST00000647641.1:n.1088A>G | ||
| ENST00000647654.1:c.728A>G | ENSP00000497568.1:p.His243Arg | |
| ENST00000647718.1:n.3516A>G | ||
| ENST00000647859.1:c.1001A>G | ENSP00000497530.1:p.His334Arg | |
| ENST00000647886.1:c.1001A>G | ENSP00000497188.1:p.His334Arg | |
| ENST00000647980.1:c.995A>G | ENSP00000498002.1:p.His332Arg | |
| ENST00000648139.1:c.701A>G | ENSP00000496818.1:p.His234Arg | |
| ENST00000648276.1:c.245A>G | ENSP00000497619.1:p.His82Arg | |
| ENST00000648298.1:c.1001A>G | ENSP00000496866.1:p.His334Arg | |
| ENST00000648452.1:c.1001A>G | ENSP00000497268.1:p.His334Arg | |
| ENST00000648459.1:c.398A>G | ENSP00000498072.1:p.His133Arg | |
| ENST00000648504.1:c.942A>G | ENSP00000497668.1:n.942A>G | |
| ENST00000648711.1:c.630A>G | ENSP00000498040.1:n.630A>G | |
| ENST00000648731.1:c.1107A>G | ||
| ENST00000648834.1:c.*81A>G | ENSP00000497764.1:n.*81A>G | |
| ENST00000648850.1:c.640A>G | ||
| ENST00000648855.1:n.925A>G | ||
| ENST00000648870.1:c.1001A>G | ENSP00000497599.1:p.His334Arg | |
| ENST00000648922.1:c.1001A>G | ENSP00000497072.1:p.His334Arg | |
| ENST00000648939.1:c.*81A>G | ENSP00000497442.1:n.*81A>G | |
| ENST00000649097.1:c.1001A>G | ENSP00000497551.1:p.His334Arg | |
| ENST00000649116.1:c.*558A>G | ENSP00000497925.1:n.*558A>G | |
| ENST00000649181.1:c.*363A>G | ENSP00000498150.1:n.*363A>G | |
| ENST00000649242.1:c.*686A>G | ENSP00000497943.1:n.*686A>G | |
| ENST00000649274.1:c.939A>G | ENSP00000497032.1:n.939A>G | |
| ENST00000649518.1:c.*605A>G | ENSP00000498169.1:n.*605A>G | |
| ENST00000649543.1:c.*605A>G | ENSP00000496826.1:n.*605A>G | |
| ENST00000649752.1:c.728A>G | ENSP00000497267.1:p.His243Arg | |
| ENST00000650076.1:c.211+26925A>G | ||
| ENST00000650471.1:c.*445A>G | ENSP00000498027.1:n.*445A>G | |
| ENST00000650604.1:c.428A>G | ENSP00000497105.1:p.His143Arg | |
| ENST00000373568.6:c.728A>G | ENSP00000362669.2:p.His243Arg | |
| ENST00000373573.7:c.1001A>G | ENSP00000362674.3:p.His334Arg | |
| ENST00000373583.5:c.164+110049A>G | ENSP00000362685.1:n.164+110049A>G | |
| ENST00000373589.8:c.728A>G | ENSP00000362691.4:p.His243Arg | |
| ENST00000470998.1:n.174A>G | ||
| NM_001166418.1:c.728A>G | NP_001159890.1:p.His243Arg | |
| NM_018486.2:c.1001A>G | NP_060956.1:p.His334Arg | |
| NR_051952.1:n.1201A>G | ||
| XM_011530986.1:c.1001A>G | XP_011529288.1:p.His334Arg | |
| XM_011530987.1:c.1001A>G | XP_011529289.1:p.His334Arg | |
| XM_011530988.1:c.1001A>G | XP_011529290.1:p.His334Arg | |
| XR_938402.1:n.1087A>G | ||
| XM_011530986.3:c.1001A>G | XP_011529288.3:p.His334Arg | |
| XM_017029640.2:c.923A>G | XP_016885129.2:p.His308Arg | |
| XM_017029641.2:c.923A>G | XP_016885130.2:p.His308Arg | |
| XM_017029642.1:c.842A>G | XP_016885131.1:p.His281Arg | |
| XM_017029643.2:c.815A>G | XP_016885132.1:p.His272Arg | |
| XM_017029644.2:c.764A>G | XP_016885133.1:p.His255Arg | |
| XM_017029645.2:c.815A>G | XP_016885134.1:p.His272Arg | |
| XM_017029646.1:c.614A>G | XP_016885135.1:p.His205Arg | |
| XM_024452405.1:c.416A>G | XP_024308173.1:p.His139Arg | |
| XR_001755711.2:n.1087A>G | ||
| XR_002958779.1:n.1087A>G | ||
| XR_002958780.1:n.1091A>G | ||
| XR_002958781.1:n.1091A>G | ||
| XR_002958782.1:n.3260A>G | ||
| XR_002958783.1:n.1067A>G | ||
| XR_938402.3:n.1087A>G | ||
| NM_018486.3:c.1001A>G MANE Select | NP_060956.1:p.His334Arg | |
| NM_001166418.2:c.728A>G | NP_001159890.1:p.His243Arg | |
| NR_051952.2:n.941A>G |