Linked Data
ClinVar Variation Id:
370151
dbSNP Id:
rs778749563
ExAC:
13:52515347 C / G
gnomAD v2:
13-52515347-C-G
gnomAD v3:
13-51941211-C-G
gnomAD v4:
13-51941211-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.51941211C>G , CM000675.2:g.51941211C>G | GRCh38 |
| NC_000013.10:g.52515347C>G , CM000675.1:g.52515347C>G | GRCh37 |
| NC_000013.9:g.51413348C>G | NCBI36 |
| NG_008806.1:g.75284G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000634296.2:c.*1076G>C | ENSP00000489512.2:n.*1076G>C | |
| ENST00000673864.2:c.*2170G>C | ENSP00000501045.2:n.*2170G>C | |
| ENST00000674147.2:c.2805G>C | ENSP00000500964.2:p.Gln935His | |
| ENST00000242839.10:c.3426G>C MANE Select | ENSP00000242839.5:p.Gln1142His | |
| ENST00000344297.9:c.2805G>C | ENSP00000342559.5:p.Gln935His | |
| ENST00000400366.6:c.3093G>C | ENSP00000383217.3:p.Gln1031His | |
| ENST00000448424.7:c.3174G>C | ENSP00000416738.3:p.Gln1058His | |
| ENST00000673772.1:c.3192G>C | ENSP00000501168.1:p.Gln1064His | |
| ENST00000673867.1:n.3565G>C | ||
| ENST00000674126.1:n.3789G>C | ||
| ENST00000674147.1:c.2361G>C | ENSP00000500964.1:p.Gln787His | |
| ENST00000242839.8:c.3426G>C | ENSP00000242839.4:p.Gln1142His | |
| ENST00000344297.8:c.2805G>C | ENSP00000342559.5:p.Gln935His | |
| ENST00000400366.5:c.3093G>C | ENSP00000383217.3:p.Gln1031His | |
| ENST00000400370.8:c.2136G>C | ENSP00000383221.3:p.Gln712His | |
| ENST00000418097.7:c.3231G>C | ENSP00000393343.2:p.Gln1077His | |
| ENST00000448424.6:c.3192G>C | ENSP00000416738.2:p.Gln1064His | |
| ENST00000634296.1:c.1204G>C | ||
| ENST00000634308.1:c.*527G>C | ENSP00000489234.1:n.*527G>C | |
| ENST00000634620.1:n.4170G>C | ||
| ENST00000634810.1:n.2771G>C | ||
| ENST00000634844.1:c.3282G>C | ENSP00000489398.1:p.Gln1094His | |
| NM_000053.3:c.3426G>C | NP_000044.2:p.Gln1142His | |
| NM_001005918.2:c.2805G>C | NP_001005918.1:p.Gln935His | |
| NM_001243182.1:c.3093G>C | NP_001230111.1:p.Gln1031His | |
| XM_005266423.2:c.3330G>C | XP_005266480.1:p.Gln1110His | |
| XM_005266424.3:c.3330G>C | XP_005266481.1:p.Gln1110His | |
| XM_005266427.2:c.3192G>C | XP_005266484.1:p.Gln1064His | |
| XM_005266428.1:c.3174G>C | XP_005266485.1:p.Gln1058His | |
| XM_005266430.3:c.3426G>C | XP_005266487.1:p.Gln1142His | |
| XM_005266431.2:c.3390G>C | XP_005266488.1:p.Gln1130His | |
| XM_005266432.2:c.2940G>C | XP_005266489.1:p.Gln980His | |
| XM_006719837.2:c.3330G>C | XP_006719900.1:p.Gln1110His | |
| XM_006719838.1:c.1242G>C | XP_006719901.1:p.Gln414His | |
| XM_006719839.1:c.1059G>C | XP_006719902.1:p.Gln353His | |
| XM_011535117.1:c.3330G>C | XP_011533419.1:p.Gln1110His | |
| XM_011535118.1:c.3291G>C | XP_011533420.1:p.Gln1097His | |
| XM_011535119.1:c.3243G>C | XP_011533421.1:p.Gln1081His | |
| XM_011535120.1:c.3012G>C | XP_011533422.1:p.Gln1004His | |
| XM_011535121.1:c.2913G>C | XP_011533423.1:p.Gln971His | |
| XM_011535122.1:c.2094G>C | XP_011533424.1:p.Gln698His | |
| XR_941601.1:n.3645G>C | ||
| XR_941602.1:n.3645G>C | ||
| XR_941603.1:n.3645G>C | ||
| XR_941604.1:n.3645G>C | ||
| NM_001330578.1:c.3192G>C | NP_001317507.1:p.Gln1064His | |
| NM_001330579.1:c.3174G>C | NP_001317508.1:p.Gln1058His | |
| XM_005266424.4:c.3330G>C | XP_005266481.1:p.Gln1110His | |
| XM_005266430.4:c.3426G>C | XP_005266487.1:p.Gln1142His | |
| XM_005266431.4:c.3390G>C | XP_005266488.1:p.Gln1130His | |
| XM_006719837.3:c.3330G>C | XP_006719900.1:p.Gln1110His | |
| XM_011535117.3:c.3330G>C | XP_011533419.1:p.Gln1110His | |
| XM_017020627.1:c.3330G>C | XP_016876116.1:p.Gln1110His | |
| NM_000053.4:c.3426G>C MANE Select | NP_000044.2:p.Gln1142His | |
| NM_001005918.3:c.2805G>C | NP_001005918.1:p.Gln935His | |
| NM_001330579.2:c.3174G>C | NP_001317508.1:p.Gln1058His | |
| NM_001243182.2:c.3093G>C | NP_001230111.1:p.Gln1031His | |
| NM_001330578.2:c.3192G>C | NP_001317507.1:p.Gln1064His |