Linked Data
ClinVar Variation Id:
558238
ClinVar RCV Id:
RCV000674475
dbSNP Id:
rs786204547
gnomAD v2:
13-52515217-C-G
gnomAD v3:
13-51941081-C-G
gnomAD v4:
13-51941081-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.51941081C>G , CM000675.2:g.51941081C>G | GRCh38 |
| NC_000013.10:g.52515217C>G , CM000675.1:g.52515217C>G | GRCh37 |
| NC_000013.9:g.51413218C>G | NCBI36 |
| NG_008806.1:g.75414G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000634296.2:c.*1206G>C | ENSP00000489512.2:n.*1206G>C | |
| ENST00000673864.2:c.*2300G>C | ENSP00000501045.2:n.*2300G>C | |
| ENST00000674147.2:c.2935G>C | ENSP00000500964.2:p.Gly979Arg | |
| ENST00000242839.10:c.3556G>C MANE Select | ENSP00000242839.5:p.Gly1186Arg | |
| ENST00000344297.9:c.2935G>C | ENSP00000342559.5:p.Gly979Arg | |
| ENST00000400366.6:c.3223G>C | ENSP00000383217.3:p.Gly1075Arg | |
| ENST00000448424.7:c.3304G>C | ENSP00000416738.3:p.Gly1102Arg | |
| ENST00000673772.1:c.3322G>C | ENSP00000501168.1:p.Gly1108Arg | |
| ENST00000673867.1:n.3695G>C | ||
| ENST00000674126.1:n.3919G>C | ||
| ENST00000674147.1:c.2491G>C | ENSP00000500964.1:p.Gly831Arg | |
| ENST00000242839.8:c.3556G>C | ENSP00000242839.4:p.Gly1186Arg | |
| ENST00000344297.8:c.2935G>C | ENSP00000342559.5:p.Gly979Arg | |
| ENST00000400366.5:c.3223G>C | ENSP00000383217.3:p.Gly1075Arg | |
| ENST00000400370.8:c.2266G>C | ENSP00000383221.3:p.Gly756Arg | |
| ENST00000418097.7:c.3361G>C | ENSP00000393343.2:p.Gly1121Arg | |
| ENST00000448424.6:c.3322G>C | ENSP00000416738.2:p.Gly1108Arg | |
| ENST00000634296.1:c.1334G>C | ||
| ENST00000634308.1:c.*657G>C | ENSP00000489234.1:n.*657G>C | |
| ENST00000634620.1:n.4300G>C | ||
| ENST00000634810.1:n.2901G>C | ||
| ENST00000634844.1:c.3412G>C | ENSP00000489398.1:p.Gly1138Arg | |
| NM_000053.3:c.3556G>C | NP_000044.2:p.Gly1186Arg | |
| NM_001005918.2:c.2935G>C | NP_001005918.1:p.Gly979Arg | |
| NM_001243182.1:c.3223G>C | NP_001230111.1:p.Gly1075Arg | |
| XM_005266423.2:c.3460G>C | XP_005266480.1:p.Gly1154Arg | |
| XM_005266424.3:c.3460G>C | XP_005266481.1:p.Gly1154Arg | |
| XM_005266427.2:c.3322G>C | XP_005266484.1:p.Gly1108Arg | |
| XM_005266428.1:c.3304G>C | XP_005266485.1:p.Gly1102Arg | |
| XM_005266430.3:c.3556G>C | XP_005266487.1:p.Gly1186Arg | |
| XM_005266431.2:c.3520G>C | XP_005266488.1:p.Gly1174Arg | |
| XM_005266432.2:c.3070G>C | XP_005266489.1:p.Gly1024Arg | |
| XM_006719837.2:c.3460G>C | XP_006719900.1:p.Gly1154Arg | |
| XM_006719838.1:c.1372G>C | XP_006719901.1:p.Gly458Arg | |
| XM_006719839.1:c.1189G>C | XP_006719902.1:p.Gly397Arg | |
| XM_011535117.1:c.3460G>C | XP_011533419.1:p.Gly1154Arg | |
| XM_011535118.1:c.3421G>C | XP_011533420.1:p.Gly1141Arg | |
| XM_011535119.1:c.3373G>C | XP_011533421.1:p.Gly1125Arg | |
| XM_011535120.1:c.3142G>C | XP_011533422.1:p.Gly1048Arg | |
| XM_011535121.1:c.3043G>C | XP_011533423.1:p.Gly1015Arg | |
| XM_011535122.1:c.2224G>C | XP_011533424.1:p.Gly742Arg | |
| XR_941601.1:n.3775G>C | ||
| XR_941602.1:n.3775G>C | ||
| XR_941603.1:n.3775G>C | ||
| XR_941604.1:n.3775G>C | ||
| NM_001330578.1:c.3322G>C | NP_001317507.1:p.Gly1108Arg | |
| NM_001330579.1:c.3304G>C | NP_001317508.1:p.Gly1102Arg | |
| XM_005266424.4:c.3460G>C | XP_005266481.1:p.Gly1154Arg | |
| XM_005266430.4:c.3556G>C | XP_005266487.1:p.Gly1186Arg | |
| XM_005266431.4:c.3520G>C | XP_005266488.1:p.Gly1174Arg | |
| XM_006719837.3:c.3460G>C | XP_006719900.1:p.Gly1154Arg | |
| XM_011535117.3:c.3460G>C | XP_011533419.1:p.Gly1154Arg | |
| XM_017020627.1:c.3460G>C | XP_016876116.1:p.Gly1154Arg | |
| NM_000053.4:c.3556G>C MANE Select | NP_000044.2:p.Gly1186Arg | |
| NM_001005918.3:c.2935G>C | NP_001005918.1:p.Gly979Arg | |
| NM_001330579.2:c.3304G>C | NP_001317508.1:p.Gly1102Arg | |
| NM_001243182.2:c.3223G>C | NP_001230111.1:p.Gly1075Arg | |
| NM_001330578.2:c.3322G>C | NP_001317507.1:p.Gly1108Arg |