Linked Data
ClinVar Variation Id:
2751354
ClinVar RCV Id:
RCV003502495
gnomAD v4:
13-51941184-A-C
MyVariant Identifiers:
chr13:g.52515320A>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.51941184A>C , CM000675.2:g.51941184A>C | GRCh38 |
| NC_000013.10:g.52515320A>C , CM000675.1:g.52515320A>C | GRCh37 |
| NC_000013.9:g.51413321A>C | NCBI36 |
| NG_008806.1:g.75311T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000634296.2:c.*1103T>G | ENSP00000489512.2:n.*1103T>G | |
| ENST00000673864.2:c.*2197T>G | ENSP00000501045.2:n.*2197T>G | |
| ENST00000674147.2:c.2832T>G | ENSP00000500964.2:p.Arg944= | |
| ENST00000242839.10:c.3453T>G MANE Select | ENSP00000242839.5:p.Arg1151= | |
| ENST00000344297.9:c.2832T>G | ENSP00000342559.5:p.Arg944= | |
| ENST00000400366.6:c.3120T>G | ENSP00000383217.3:p.Arg1040= | |
| ENST00000448424.7:c.3201T>G | ENSP00000416738.3:p.Arg1067= | |
| ENST00000673772.1:c.3219T>G | ENSP00000501168.1:p.Arg1073= | |
| ENST00000673867.1:n.3592T>G | ||
| ENST00000674126.1:n.3816T>G | ||
| ENST00000674147.1:c.2388T>G | ENSP00000500964.1:p.Arg796= | |
| ENST00000242839.8:c.3453T>G | ENSP00000242839.4:p.Arg1151= | |
| ENST00000344297.8:c.2832T>G | ENSP00000342559.5:p.Arg944= | |
| ENST00000400366.5:c.3120T>G | ENSP00000383217.3:p.Arg1040= | |
| ENST00000400370.8:c.2163T>G | ENSP00000383221.3:p.Arg721= | |
| ENST00000418097.7:c.3258T>G | ENSP00000393343.2:p.Arg1086= | |
| ENST00000448424.6:c.3219T>G | ENSP00000416738.2:p.Arg1073= | |
| ENST00000634296.1:c.1231T>G | ||
| ENST00000634308.1:c.*554T>G | ENSP00000489234.1:n.*554T>G | |
| ENST00000634620.1:n.4197T>G | ||
| ENST00000634810.1:n.2798T>G | ||
| ENST00000634844.1:c.3309T>G | ENSP00000489398.1:p.Arg1103= | |
| NM_000053.3:c.3453T>G | NP_000044.2:p.Arg1151= | |
| NM_001005918.2:c.2832T>G | NP_001005918.1:p.Arg944= | |
| NM_001243182.1:c.3120T>G | NP_001230111.1:p.Arg1040= | |
| XM_005266423.2:c.3357T>G | XP_005266480.1:p.Arg1119= | |
| XM_005266424.3:c.3357T>G | XP_005266481.1:p.Arg1119= | |
| XM_005266427.2:c.3219T>G | XP_005266484.1:p.Arg1073= | |
| XM_005266428.1:c.3201T>G | XP_005266485.1:p.Arg1067= | |
| XM_005266430.3:c.3453T>G | XP_005266487.1:p.Arg1151= | |
| XM_005266431.2:c.3417T>G | XP_005266488.1:p.Arg1139= | |
| XM_005266432.2:c.2967T>G | XP_005266489.1:p.Arg989= | |
| XM_006719837.2:c.3357T>G | XP_006719900.1:p.Arg1119= | |
| XM_006719838.1:c.1269T>G | XP_006719901.1:p.Arg423= | |
| XM_006719839.1:c.1086T>G | XP_006719902.1:p.Arg362= | |
| XM_011535117.1:c.3357T>G | XP_011533419.1:p.Arg1119= | |
| XM_011535118.1:c.3318T>G | XP_011533420.1:p.Arg1106= | |
| XM_011535119.1:c.3270T>G | XP_011533421.1:p.Arg1090= | |
| XM_011535120.1:c.3039T>G | XP_011533422.1:p.Arg1013= | |
| XM_011535121.1:c.2940T>G | XP_011533423.1:p.Arg980= | |
| XM_011535122.1:c.2121T>G | XP_011533424.1:p.Arg707= | |
| XR_941601.1:n.3672T>G | ||
| XR_941602.1:n.3672T>G | ||
| XR_941603.1:n.3672T>G | ||
| XR_941604.1:n.3672T>G | ||
| NM_001330578.1:c.3219T>G | NP_001317507.1:p.Arg1073= | |
| NM_001330579.1:c.3201T>G | NP_001317508.1:p.Arg1067= | |
| XM_005266424.4:c.3357T>G | XP_005266481.1:p.Arg1119= | |
| XM_005266430.4:c.3453T>G | XP_005266487.1:p.Arg1151= | |
| XM_005266431.4:c.3417T>G | XP_005266488.1:p.Arg1139= | |
| XM_006719837.3:c.3357T>G | XP_006719900.1:p.Arg1119= | |
| XM_011535117.3:c.3357T>G | XP_011533419.1:p.Arg1119= | |
| XM_017020627.1:c.3357T>G | XP_016876116.1:p.Arg1119= | |
| NM_000053.4:c.3453T>G MANE Select | NP_000044.2:p.Arg1151= | |
| NM_001005918.3:c.2832T>G | NP_001005918.1:p.Arg944= | |
| NM_001330579.2:c.3201T>G | NP_001317508.1:p.Arg1067= | |
| NM_001243182.2:c.3120T>G | NP_001230111.1:p.Arg1040= | |
| NM_001330578.2:c.3219T>G | NP_001317507.1:p.Arg1073= |