Linked Data
ClinVar Variation Id:
375416
ClinVar RCV Id:
RCV000519390
dbSNP Id:
rs1555782724
PubMed:
PMID:28631899
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.55585279C>T , CM000680.2:g.55585279C>T | GRCh38 |
| NC_000018.9:g.53252510C>T , CM000680.1:g.53252510C>T | GRCh37 |
| NC_000018.8:g.51403508C>T | NCBI36 |
| NG_011716.1:g.8351G>A | |
| NG_011716.2:g.55715G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354452.8:c.145+1G>A MANE Select | ENSP00000346440.3:n.145+1G>A | |
| ENST00000635822.2:c.145+1G>A | ENSP00000490451.1:n.145+1G>A | |
| ENST00000636400.2:c.73+1G>A | ENSP00000490006.1:n.73+1G>A | |
| ENST00000636751.2:c.73+1G>A | ENSP00000489783.1:n.73+1G>A | |
| ENST00000637115.2:c.145+1G>A | ENSP00000490234.1:n.145+1G>A | |
| ENST00000637941.1:n.615+1G>A | ||
| ENST00000638154.3:c.175+1G>A | ENSP00000490625.2:n.175+1G>A | |
| ENST00000674598.1:n.615+1G>A | ||
| ENST00000354452.7:c.145+1G>A | ENSP00000346440.3:n.145+1G>A | |
| ENST00000356073.8:c.145+1G>A | ENSP00000348374.4:n.145+1G>A | |
| ENST00000398339.5:c.451+1G>A | ENSP00000381382.1:n.451+1G>A | |
| ENST00000537578.5:c.73+1G>A | ENSP00000440731.1:n.73+1G>A | |
| ENST00000540999.5:c.73+1G>A | ENSP00000445202.1:n.73+1G>A | |
| ENST00000562543.5:c.145+1G>A | ENSP00000455450.1:n.145+1G>A | |
| ENST00000562847.5:c.-200+1G>A | ENSP00000454866.1:n.-200+1G>A | |
| ENST00000563824.5:c.73+1G>A | ENSP00000457113.2:n.73+1G>A | |
| ENST00000563888.6:c.73+1G>A | ENSP00000457747.3:n.73+1G>A | |
| ENST00000564343.5:c.73+1G>A | ENSP00000454328.1:n.73+1G>A | |
| ENST00000564403.6:c.145+1G>A | ENSP00000457263.1:n.145+1G>A | |
| ENST00000564999.5:c.145+1G>A | ENSP00000457649.1:n.145+1G>A | |
| ENST00000565018.6:c.73+1G>A | ENSP00000455984.2:n.73+1G>A | |
| ENST00000565124.4:c.481+1G>A | ENSP00000457082.2:n.481+1G>A | |
| ENST00000565908.6:c.73+1G>A | ENSP00000454584.2:n.73+1G>A | |
| ENST00000566279.5:c.145+1G>A | ENSP00000456125.1:n.145+1G>A | |
| ENST00000566286.5:c.139+1G>A | ENSP00000455418.2:n.139+1G>A | |
| ENST00000566514.5:c.106+1G>A | ENSP00000456983.2:n.106+1G>A | |
| ENST00000567880.5:c.145+1G>A | ENSP00000454366.1:n.145+1G>A | |
| ENST00000568147.5:c.109+1G>A | ENSP00000455163.2:n.109+1G>A | |
| ENST00000568169.5:c.157+1G>A | ENSP00000457392.1:n.157+1G>A | |
| ENST00000568673.5:c.73+1G>A | ENSP00000455135.1:n.73+1G>A | |
| ENST00000568740.5:c.73+1G>A | ENSP00000455346.1:n.73+1G>A | |
| ENST00000569357.4:c.354+1G>A | ||
| ENST00000616053.4:c.73+1G>A | ENSP00000478549.1:n.73+1G>A | |
| ENST00000626425.2:c.73+1G>A | ENSP00000486111.1:n.73+1G>A | |
| ENST00000626595.2:c.145+1G>A | ENSP00000487415.1:n.145+1G>A | |
| ENST00000627136.2:n.119+1G>A | ||
| ENST00000627320.2:c.*75+1G>A | ENSP00000487557.1:n.*75+1G>A | |
| ENST00000627568.2:n.371+1G>A | ||
| ENST00000627685.2:c.73+1G>A | ENSP00000487171.1:n.73+1G>A | |
| ENST00000627784.2:c.145+1G>A | ENSP00000487150.1:n.145+1G>A | |
| ENST00000629387.2:c.145+1G>A | ENSP00000486670.1:n.145+1G>A | |
| ENST00000630224.2:c.*114+1G>A | ENSP00000487134.1:n.*114+1G>A | |
| ENST00000630319.2:c.73+1G>A | ENSP00000486215.1:n.73+1G>A | |
| NM_001083962.1:c.145+1G>A | NP_001077431.1:n.145+1G>A | |
| NM_001243226.2:c.451+1G>A | NP_001230155.2:n.451+1G>A | |
| NM_001243227.1:c.73+1G>A | NP_001230156.1:n.73+1G>A | |
| NM_001243228.1:c.145+1G>A | NP_001230157.1:n.145+1G>A | |
| NM_001243230.1:c.139+1G>A | NP_001230159.1:n.139+1G>A | |
| NM_001306207.1:c.73+1G>A | NP_001293136.1:n.73+1G>A | |
| NM_003199.2:c.145+1G>A | NP_003190.1:n.145+1G>A | |
| XM_005266739.3:c.73+1G>A | XP_005266796.2:n.73+1G>A | |
| XM_005266741.3:c.145+1G>A | XP_005266798.1:n.145+1G>A | |
| XM_005266743.3:c.73+1G>A | XP_005266800.1:n.73+1G>A | |
| XM_005266744.3:c.73+1G>A | XP_005266801.1:n.73+1G>A | |
| XM_005266745.3:c.73+1G>A | XP_005266802.1:n.73+1G>A | |
| XM_006722536.2:c.145+1G>A | XP_006722599.1:n.145+1G>A | |
| XM_006722537.2:c.145+1G>A | XP_006722600.1:n.145+1G>A | |
| XM_006722538.2:c.73+1G>A | XP_006722601.1:n.73+1G>A | |
| XM_011526154.1:c.451+1G>A | XP_011524456.1:n.451+1G>A | |
| XM_011526155.1:c.451+1G>A | XP_011524457.1:n.451+1G>A | |
| XM_011526156.1:c.451+1G>A | XP_011524458.1:n.451+1G>A | |
| XM_011526157.1:c.451+1G>A | XP_011524459.1:n.451+1G>A | |
| XM_011526158.1:c.139+1G>A | XP_011524460.1:n.139+1G>A | |
| NM_001330604.2:c.145+1G>A | NP_001317533.1:n.145+1G>A | |
| NM_001348217.1:c.73+1G>A | NP_001335146.1:n.73+1G>A | |
| NM_001348218.1:c.73+1G>A | NP_001335147.1:n.73+1G>A | |
| NM_001348219.1:c.73+1G>A | NP_001335148.1:n.73+1G>A | |
| NM_001348220.1:c.73+1G>A | NP_001335149.1:n.73+1G>A | |
| XM_005266739.4:c.73+1G>A | XP_005266796.2:n.73+1G>A | |
| XM_005266741.4:c.145+1G>A | XP_005266798.1:n.145+1G>A | |
| XM_005266745.4:c.73+1G>A | XP_005266802.1:n.73+1G>A | |
| XM_006722536.3:c.145+1G>A | XP_006722599.1:n.145+1G>A | |
| XM_006722537.3:c.145+1G>A | XP_006722600.1:n.145+1G>A | |
| XM_006722538.3:c.73+1G>A | XP_006722601.1:n.73+1G>A | |
| XM_017025934.2:c.73+1G>A | XP_016881423.1:n.73+1G>A | |
| XM_017025935.2:c.73+1G>A | XP_016881424.1:n.73+1G>A | |
| XM_017025936.2:c.73+1G>A | XP_016881425.1:n.73+1G>A | |
| XM_017025937.2:c.73+1G>A | XP_016881426.1:n.73+1G>A | |
| XM_017025938.2:c.145+1G>A | XP_016881427.1:n.145+1G>A | |
| XM_017025940.2:c.145+1G>A | XP_016881429.1:n.145+1G>A | |
| XM_017025941.2:c.145+1G>A | XP_016881430.1:n.145+1G>A | |
| XM_017025942.2:c.145+1G>A | XP_016881431.1:n.145+1G>A | |
| XM_017025943.2:c.145+1G>A | XP_016881432.1:n.145+1G>A | |
| XM_017025944.2:c.73+1G>A | XP_016881433.1:n.73+1G>A | |
| XM_017025945.2:c.73+1G>A | XP_016881434.1:n.73+1G>A | |
| XM_017025946.2:c.73+1G>A | XP_016881435.1:n.73+1G>A | |
| XM_017025948.2:c.73+1G>A | XP_016881437.1:n.73+1G>A | |
| XM_017025950.2:c.73+1G>A | XP_016881439.1:n.73+1G>A | |
| XM_024451240.1:c.73+1G>A | XP_024307008.1:n.73+1G>A | |
| NM_001083962.2:c.145+1G>A MANE Select | NP_001077431.1:n.145+1G>A | |
| NM_001243226.3:c.451+1G>A | NP_001230155.2:n.451+1G>A | |
| NM_001243227.2:c.73+1G>A | NP_001230156.1:n.73+1G>A | |
| NM_001243228.2:c.145+1G>A | NP_001230157.1:n.145+1G>A | |
| NM_001330604.3:c.145+1G>A | NP_001317533.1:n.145+1G>A | |
| NM_001348218.2:c.73+1G>A | NP_001335147.1:n.73+1G>A | |
| NM_001348219.2:c.73+1G>A | NP_001335148.1:n.73+1G>A | |
| NM_001369567.1:c.145+1G>A | NP_001356496.1:n.145+1G>A | |
| NM_001369568.1:c.145+1G>A | NP_001356497.1:n.145+1G>A | |
| NM_001369569.1:c.145+1G>A | NP_001356498.1:n.145+1G>A | |
| NM_001369570.1:c.145+1G>A | NP_001356499.1:n.145+1G>A | |
| NM_001369571.1:c.145+1G>A | NP_001356500.1:n.145+1G>A | |
| NM_001369572.1:c.145+1G>A | NP_001356501.1:n.145+1G>A | |
| NM_001369573.1:c.145+1G>A | NP_001356502.1:n.145+1G>A | |
| NM_001369574.1:c.145+1G>A | NP_001356503.1:n.145+1G>A | |
| NM_001369575.1:c.73+1G>A | NP_001356504.1:n.73+1G>A | |
| NM_001369576.1:c.73+1G>A | NP_001356505.1:n.73+1G>A | |
| NM_001369577.1:c.73+1G>A | NP_001356506.1:n.73+1G>A | |
| NM_001369578.1:c.73+1G>A | NP_001356507.1:n.73+1G>A | |
| NM_001369579.1:c.73+1G>A | NP_001356508.1:n.73+1G>A | |
| NM_001369580.1:c.73+1G>A | NP_001356509.1:n.73+1G>A | |
| NM_001369581.1:c.73+1G>A | NP_001356510.1:n.73+1G>A | |
| NM_001369582.1:c.73+1G>A | NP_001356511.1:n.73+1G>A | |
| NM_001369583.1:c.73+1G>A | NP_001356512.1:n.73+1G>A | |
| NM_001369584.1:c.73+1G>A | NP_001356513.1:n.73+1G>A | |
| NM_001369585.1:c.73+1G>A | NP_001356514.1:n.73+1G>A | |
| NM_001369586.1:c.73+1G>A | NP_001356515.1:n.73+1G>A | |
| NM_003199.3:c.145+1G>A | NP_003190.1:n.145+1G>A | |
| NM_001243230.2:c.139+1G>A | NP_001230159.1:n.139+1G>A |