Linked Data
ClinVar Variation Id:
495415
dbSNP Id:
rs377297166
ExAC:
13:52515321 C / T
gnomAD v2:
13-52515321-C-T
gnomAD v4:
13-51941185-C-T
COSMIC:
COSM4048035
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.51941185C>T , CM000675.2:g.51941185C>T | GRCh38 |
| NC_000013.10:g.52515321C>T , CM000675.1:g.52515321C>T | GRCh37 |
| NC_000013.9:g.51413322C>T | NCBI36 |
| NG_008806.1:g.75310G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000634296.2:c.*1102G>A | ENSP00000489512.2:n.*1102G>A | |
| ENST00000673864.2:c.*2196G>A | ENSP00000501045.2:n.*2196G>A | |
| ENST00000674147.2:c.2831G>A | ENSP00000500964.2:p.Arg944His | |
| ENST00000242839.10:c.3452G>A MANE Select | ENSP00000242839.5:p.Arg1151His | |
| ENST00000344297.9:c.2831G>A | ENSP00000342559.5:p.Arg944His | |
| ENST00000400366.6:c.3119G>A | ENSP00000383217.3:p.Arg1040His | |
| ENST00000448424.7:c.3200G>A | ENSP00000416738.3:p.Arg1067His | |
| ENST00000673772.1:c.3218G>A | ENSP00000501168.1:p.Arg1073His | |
| ENST00000673867.1:n.3591G>A | ||
| ENST00000674126.1:n.3815G>A | ||
| ENST00000674147.1:c.2387G>A | ENSP00000500964.1:p.Arg796His | |
| ENST00000242839.8:c.3452G>A | ENSP00000242839.4:p.Arg1151His | |
| ENST00000344297.8:c.2831G>A | ENSP00000342559.5:p.Arg944His | |
| ENST00000400366.5:c.3119G>A | ENSP00000383217.3:p.Arg1040His | |
| ENST00000400370.8:c.2162G>A | ENSP00000383221.3:p.Arg721His | |
| ENST00000418097.7:c.3257G>A | ENSP00000393343.2:p.Arg1086His | |
| ENST00000448424.6:c.3218G>A | ENSP00000416738.2:p.Arg1073His | |
| ENST00000634296.1:c.1230G>A | ||
| ENST00000634308.1:c.*553G>A | ENSP00000489234.1:n.*553G>A | |
| ENST00000634620.1:n.4196G>A | ||
| ENST00000634810.1:n.2797G>A | ||
| ENST00000634844.1:c.3308G>A | ENSP00000489398.1:p.Arg1103His | |
| NM_000053.3:c.3452G>A | NP_000044.2:p.Arg1151His | |
| NM_001005918.2:c.2831G>A | NP_001005918.1:p.Arg944His | |
| NM_001243182.1:c.3119G>A | NP_001230111.1:p.Arg1040His | |
| XM_005266423.2:c.3356G>A | XP_005266480.1:p.Arg1119His | |
| XM_005266424.3:c.3356G>A | XP_005266481.1:p.Arg1119His | |
| XM_005266427.2:c.3218G>A | XP_005266484.1:p.Arg1073His | |
| XM_005266428.1:c.3200G>A | XP_005266485.1:p.Arg1067His | |
| XM_005266430.3:c.3452G>A | XP_005266487.1:p.Arg1151His | |
| XM_005266431.2:c.3416G>A | XP_005266488.1:p.Arg1139His | |
| XM_005266432.2:c.2966G>A | XP_005266489.1:p.Arg989His | |
| XM_006719837.2:c.3356G>A | XP_006719900.1:p.Arg1119His | |
| XM_006719838.1:c.1268G>A | XP_006719901.1:p.Arg423His | |
| XM_006719839.1:c.1085G>A | XP_006719902.1:p.Arg362His | |
| XM_011535117.1:c.3356G>A | XP_011533419.1:p.Arg1119His | |
| XM_011535118.1:c.3317G>A | XP_011533420.1:p.Arg1106His | |
| XM_011535119.1:c.3269G>A | XP_011533421.1:p.Arg1090His | |
| XM_011535120.1:c.3038G>A | XP_011533422.1:p.Arg1013His | |
| XM_011535121.1:c.2939G>A | XP_011533423.1:p.Arg980His | |
| XM_011535122.1:c.2120G>A | XP_011533424.1:p.Arg707His | |
| XR_941601.1:n.3671G>A | ||
| XR_941602.1:n.3671G>A | ||
| XR_941603.1:n.3671G>A | ||
| XR_941604.1:n.3671G>A | ||
| NM_001330578.1:c.3218G>A | NP_001317507.1:p.Arg1073His | |
| NM_001330579.1:c.3200G>A | NP_001317508.1:p.Arg1067His | |
| XM_005266424.4:c.3356G>A | XP_005266481.1:p.Arg1119His | |
| XM_005266430.4:c.3452G>A | XP_005266487.1:p.Arg1151His | |
| XM_005266431.4:c.3416G>A | XP_005266488.1:p.Arg1139His | |
| XM_006719837.3:c.3356G>A | XP_006719900.1:p.Arg1119His | |
| XM_011535117.3:c.3356G>A | XP_011533419.1:p.Arg1119His | |
| XM_017020627.1:c.3356G>A | XP_016876116.1:p.Arg1119His | |
| NM_000053.4:c.3452G>A MANE Select | NP_000044.2:p.Arg1151His | |
| NM_001005918.3:c.2831G>A | NP_001005918.1:p.Arg944His | |
| NM_001330579.2:c.3200G>A | NP_001317508.1:p.Arg1067His | |
| NM_001243182.2:c.3119G>A | NP_001230111.1:p.Arg1040His | |
| NM_001330578.2:c.3218G>A | NP_001317507.1:p.Arg1073His |