Linked Data
ClinVar Variation Id:
1679504
ClinVar RCV Id:
RCV002227383
dbSNP Id:
rs377297166
gnomAD v2:
13-52515321-C-G
gnomAD v3:
13-51941185-C-G
gnomAD v4:
13-51941185-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.51941185C>G , CM000675.2:g.51941185C>G | GRCh38 |
| NC_000013.10:g.52515321C>G , CM000675.1:g.52515321C>G | GRCh37 |
| NC_000013.9:g.51413322C>G | NCBI36 |
| NG_008806.1:g.75310G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000634296.2:c.*1102G>C | ENSP00000489512.2:n.*1102G>C | |
| ENST00000673864.2:c.*2196G>C | ENSP00000501045.2:n.*2196G>C | |
| ENST00000674147.2:c.2831G>C | ENSP00000500964.2:p.Arg944Pro | |
| ENST00000242839.10:c.3452G>C MANE Select | ENSP00000242839.5:p.Arg1151Pro | |
| ENST00000344297.9:c.2831G>C | ENSP00000342559.5:p.Arg944Pro | |
| ENST00000400366.6:c.3119G>C | ENSP00000383217.3:p.Arg1040Pro | |
| ENST00000448424.7:c.3200G>C | ENSP00000416738.3:p.Arg1067Pro | |
| ENST00000673772.1:c.3218G>C | ENSP00000501168.1:p.Arg1073Pro | |
| ENST00000673867.1:n.3591G>C | ||
| ENST00000674126.1:n.3815G>C | ||
| ENST00000674147.1:c.2387G>C | ENSP00000500964.1:p.Arg796Pro | |
| ENST00000242839.8:c.3452G>C | ENSP00000242839.4:p.Arg1151Pro | |
| ENST00000344297.8:c.2831G>C | ENSP00000342559.5:p.Arg944Pro | |
| ENST00000400366.5:c.3119G>C | ENSP00000383217.3:p.Arg1040Pro | |
| ENST00000400370.8:c.2162G>C | ENSP00000383221.3:p.Arg721Pro | |
| ENST00000418097.7:c.3257G>C | ENSP00000393343.2:p.Arg1086Pro | |
| ENST00000448424.6:c.3218G>C | ENSP00000416738.2:p.Arg1073Pro | |
| ENST00000634296.1:c.1230G>C | ||
| ENST00000634308.1:c.*553G>C | ENSP00000489234.1:n.*553G>C | |
| ENST00000634620.1:n.4196G>C | ||
| ENST00000634810.1:n.2797G>C | ||
| ENST00000634844.1:c.3308G>C | ENSP00000489398.1:p.Arg1103Pro | |
| NM_000053.3:c.3452G>C | NP_000044.2:p.Arg1151Pro | |
| NM_001005918.2:c.2831G>C | NP_001005918.1:p.Arg944Pro | |
| NM_001243182.1:c.3119G>C | NP_001230111.1:p.Arg1040Pro | |
| XM_005266423.2:c.3356G>C | XP_005266480.1:p.Arg1119Pro | |
| XM_005266424.3:c.3356G>C | XP_005266481.1:p.Arg1119Pro | |
| XM_005266427.2:c.3218G>C | XP_005266484.1:p.Arg1073Pro | |
| XM_005266428.1:c.3200G>C | XP_005266485.1:p.Arg1067Pro | |
| XM_005266430.3:c.3452G>C | XP_005266487.1:p.Arg1151Pro | |
| XM_005266431.2:c.3416G>C | XP_005266488.1:p.Arg1139Pro | |
| XM_005266432.2:c.2966G>C | XP_005266489.1:p.Arg989Pro | |
| XM_006719837.2:c.3356G>C | XP_006719900.1:p.Arg1119Pro | |
| XM_006719838.1:c.1268G>C | XP_006719901.1:p.Arg423Pro | |
| XM_006719839.1:c.1085G>C | XP_006719902.1:p.Arg362Pro | |
| XM_011535117.1:c.3356G>C | XP_011533419.1:p.Arg1119Pro | |
| XM_011535118.1:c.3317G>C | XP_011533420.1:p.Arg1106Pro | |
| XM_011535119.1:c.3269G>C | XP_011533421.1:p.Arg1090Pro | |
| XM_011535120.1:c.3038G>C | XP_011533422.1:p.Arg1013Pro | |
| XM_011535121.1:c.2939G>C | XP_011533423.1:p.Arg980Pro | |
| XM_011535122.1:c.2120G>C | XP_011533424.1:p.Arg707Pro | |
| XR_941601.1:n.3671G>C | ||
| XR_941602.1:n.3671G>C | ||
| XR_941603.1:n.3671G>C | ||
| XR_941604.1:n.3671G>C | ||
| NM_001330578.1:c.3218G>C | NP_001317507.1:p.Arg1073Pro | |
| NM_001330579.1:c.3200G>C | NP_001317508.1:p.Arg1067Pro | |
| XM_005266424.4:c.3356G>C | XP_005266481.1:p.Arg1119Pro | |
| XM_005266430.4:c.3452G>C | XP_005266487.1:p.Arg1151Pro | |
| XM_005266431.4:c.3416G>C | XP_005266488.1:p.Arg1139Pro | |
| XM_006719837.3:c.3356G>C | XP_006719900.1:p.Arg1119Pro | |
| XM_011535117.3:c.3356G>C | XP_011533419.1:p.Arg1119Pro | |
| XM_017020627.1:c.3356G>C | XP_016876116.1:p.Arg1119Pro | |
| NM_000053.4:c.3452G>C MANE Select | NP_000044.2:p.Arg1151Pro | |
| NM_001005918.3:c.2831G>C | NP_001005918.1:p.Arg944Pro | |
| NM_001330579.2:c.3200G>C | NP_001317508.1:p.Arg1067Pro | |
| NM_001243182.2:c.3119G>C | NP_001230111.1:p.Arg1040Pro | |
| NM_001330578.2:c.3218G>C | NP_001317507.1:p.Arg1073Pro |