Linked Data
ClinVar Variation Id:
35719
dbSNP Id:
rs74085882
ExAC:
13:52518387 T / C
gnomAD v2:
13-52518387-T-C
gnomAD v3:
13-51944251-T-C
gnomAD v4:
13-51944251-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.51944251T>C , CM000675.2:g.51944251T>C | GRCh38 |
| NC_000013.10:g.52518387T>C , CM000675.1:g.52518387T>C | GRCh37 |
| NC_000013.9:g.51416388T>C | NCBI36 |
| NG_008806.1:g.72244A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000634296.2:c.*894-1697A>G | ENSP00000489512.2:n.*894-1697A>G | |
| ENST00000673864.2:c.*1845A>G | ENSP00000501045.2:n.*1845A>G | |
| ENST00000674147.2:c.2480A>G | ENSP00000500964.2:p.His827Arg | |
| ENST00000242839.10:c.3101A>G MANE Select | ENSP00000242839.5:p.His1034Arg | |
| ENST00000344297.9:c.2480A>G | ENSP00000342559.5:p.His827Arg | |
| ENST00000400366.6:c.2768A>G | ENSP00000383217.3:p.His923Arg | |
| ENST00000448424.7:c.2849A>G | ENSP00000416738.3:p.His950Arg | |
| ENST00000673772.1:c.2867A>G | ENSP00000501168.1:p.His956Arg | |
| ENST00000673867.1:n.3240A>G | ||
| ENST00000674126.1:n.3464A>G | ||
| ENST00000674147.1:c.2036A>G | ENSP00000500964.1:p.His679Arg | |
| ENST00000242839.8:c.3101A>G | ENSP00000242839.4:p.His1034Arg | |
| ENST00000344297.8:c.2480A>G | ENSP00000342559.5:p.His827Arg | |
| ENST00000400366.5:c.2768A>G | ENSP00000383217.3:p.His923Arg | |
| ENST00000400370.8:c.1811A>G | ENSP00000383221.3:p.His604Arg | |
| ENST00000418097.7:c.2906A>G | ENSP00000393343.2:p.His969Arg | |
| ENST00000448424.6:c.2867A>G | ENSP00000416738.2:p.His956Arg | |
| ENST00000466629.1:n.321A>G | ||
| ENST00000634296.1:c.1022-1697A>G | ||
| ENST00000634308.1:c.*202A>G | ENSP00000489234.1:n.*202A>G | |
| ENST00000634620.1:n.3845A>G | ||
| ENST00000634810.1:n.2446A>G | ||
| ENST00000634844.1:c.2957A>G | ENSP00000489398.1:p.His986Arg | |
| ENST00000635406.1:n.447A>G | ||
| NM_000053.3:c.3101A>G | NP_000044.2:p.His1034Arg | |
| NM_001005918.2:c.2480A>G | NP_001005918.1:p.His827Arg | |
| NM_001243182.1:c.2768A>G | NP_001230111.1:p.His923Arg | |
| XM_005266423.2:c.3005A>G | XP_005266480.1:p.His1002Arg | |
| XM_005266424.3:c.3005A>G | XP_005266481.1:p.His1002Arg | |
| XM_005266427.2:c.2867A>G | XP_005266484.1:p.His956Arg | |
| XM_005266428.1:c.2849A>G | XP_005266485.1:p.His950Arg | |
| XM_005266430.3:c.3101A>G | XP_005266487.1:p.His1034Arg | |
| XM_005266431.2:c.3065A>G | XP_005266488.1:p.His1022Arg | |
| XM_005266432.2:c.2615A>G | XP_005266489.1:p.His872Arg | |
| XM_006719837.2:c.3005A>G | XP_006719900.1:p.His1002Arg | |
| XM_006719838.1:c.917A>G | XP_006719901.1:p.His306Arg | |
| XM_006719839.1:c.877-1697A>G | XP_006719902.1:n.877-1697A>G | |
| XM_011535117.1:c.3005A>G | XP_011533419.1:p.His1002Arg | |
| XM_011535118.1:c.2966A>G | XP_011533420.1:p.His989Arg | |
| XM_011535119.1:c.3061-1697A>G | XP_011533421.1:n.3061-1697A>G | |
| XM_011535120.1:c.2687A>G | XP_011533422.1:p.His896Arg | |
| XM_011535121.1:c.2731-1697A>G | XP_011533423.1:n.2731-1697A>G | |
| XM_011535122.1:c.1769A>G | XP_011533424.1:p.His590Arg | |
| XR_941601.1:n.3320A>G | ||
| XR_941602.1:n.3320A>G | ||
| XR_941603.1:n.3320A>G | ||
| XR_941604.1:n.3320A>G | ||
| NM_001330578.1:c.2867A>G | NP_001317507.1:p.His956Arg | |
| NM_001330579.1:c.2849A>G | NP_001317508.1:p.His950Arg | |
| XM_005266424.4:c.3005A>G | XP_005266481.1:p.His1002Arg | |
| XM_005266430.4:c.3101A>G | XP_005266487.1:p.His1034Arg | |
| XM_005266431.4:c.3065A>G | XP_005266488.1:p.His1022Arg | |
| XM_006719837.3:c.3005A>G | XP_006719900.1:p.His1002Arg | |
| XM_011535117.3:c.3005A>G | XP_011533419.1:p.His1002Arg | |
| XM_017020627.1:c.3005A>G | XP_016876116.1:p.His1002Arg | |
| NM_000053.4:c.3101A>G MANE Select | NP_000044.2:p.His1034Arg | |
| NM_001005918.3:c.2480A>G | NP_001005918.1:p.His827Arg | |
| NM_001330579.2:c.2849A>G | NP_001317508.1:p.His950Arg | |
| NM_001243182.2:c.2768A>G | NP_001230111.1:p.His923Arg | |
| NM_001330578.2:c.2867A>G | NP_001317507.1:p.His956Arg |