Linked Data
ClinVar Variation Id:
2847559
ClinVar RCV Id:
RCV003608873
MyVariant Identifiers:
chr13:g.52511720C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.51937584C>G , CM000675.2:g.51937584C>G | GRCh38 |
| NC_000013.10:g.52511720C>G , CM000675.1:g.52511720C>G | GRCh37 |
| NC_000013.9:g.51409721C>G | NCBI36 |
| NG_008806.1:g.78911G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000634296.2:c.*1445G>C | ENSP00000489512.2:n.*1445G>C | |
| ENST00000673864.2:c.*2539G>C | ENSP00000501045.2:n.*2539G>C | |
| ENST00000674147.2:c.3174G>C | ENSP00000500964.2:p.Val1058= | |
| ENST00000242839.10:c.3795G>C MANE Select | ENSP00000242839.5:p.Val1265= | |
| ENST00000344297.9:c.3174G>C | ENSP00000342559.5:p.Val1058= | |
| ENST00000400366.6:c.3462G>C | ENSP00000383217.3:p.Val1154= | |
| ENST00000448424.7:c.3543G>C | ENSP00000416738.3:p.Val1181= | |
| ENST00000673696.1:n.1036G>C | ||
| ENST00000673772.1:c.3561G>C | ENSP00000501168.1:p.Val1187= | |
| ENST00000673867.1:n.3934G>C | ||
| ENST00000673923.1:n.661G>C | ||
| ENST00000674147.1:c.2730G>C | ENSP00000500964.1:p.Val910= | |
| ENST00000242839.8:c.3795G>C | ENSP00000242839.4:p.Val1265= | |
| ENST00000344297.8:c.3174G>C | ENSP00000342559.5:p.Val1058= | |
| ENST00000400366.5:c.3462G>C | ENSP00000383217.3:p.Val1154= | |
| ENST00000400370.8:c.2505G>C | ENSP00000383221.3:p.Val835= | |
| ENST00000418097.7:c.3600G>C | ENSP00000393343.2:p.Val1200= | |
| ENST00000448424.6:c.3561G>C | ENSP00000416738.2:p.Val1187= | |
| ENST00000634296.1:c.1573G>C | ||
| ENST00000634308.1:c.*896G>C | ENSP00000489234.1:n.*896G>C | |
| ENST00000634620.1:n.4539G>C | ||
| ENST00000634810.1:n.3140G>C | ||
| ENST00000634844.1:c.3651G>C | ENSP00000489398.1:p.Val1217= | |
| NM_000053.3:c.3795G>C | NP_000044.2:p.Val1265= | |
| NM_001005918.2:c.3174G>C | NP_001005918.1:p.Val1058= | |
| NM_001243182.1:c.3462G>C | NP_001230111.1:p.Val1154= | |
| XM_005266423.2:c.3699G>C | XP_005266480.1:p.Val1233= | |
| XM_005266424.3:c.3699G>C | XP_005266481.1:p.Val1233= | |
| XM_005266427.2:c.3561G>C | XP_005266484.1:p.Val1187= | |
| XM_005266428.1:c.3543G>C | XP_005266485.1:p.Val1181= | |
| XM_005266430.3:c.3795G>C | XP_005266487.1:p.Val1265= | |
| XM_005266431.2:c.3759G>C | XP_005266488.1:p.Val1253= | |
| XM_005266432.2:c.3309G>C | XP_005266489.1:p.Val1103= | |
| XM_006719837.2:c.3699G>C | XP_006719900.1:p.Val1233= | |
| XM_006719838.1:c.1611G>C | XP_006719901.1:p.Val537= | |
| XM_006719839.1:c.1428G>C | XP_006719902.1:p.Val476= | |
| XM_011535117.1:c.3699G>C | XP_011533419.1:p.Val1233= | |
| XM_011535118.1:c.3660G>C | XP_011533420.1:p.Val1220= | |
| XM_011535119.1:c.3612G>C | XP_011533421.1:p.Val1204= | |
| XM_011535120.1:c.3381G>C | XP_011533422.1:p.Val1127= | |
| XM_011535121.1:c.3282G>C | XP_011533423.1:p.Val1094= | |
| XM_011535122.1:c.2463G>C | XP_011533424.1:p.Val821= | |
| XR_941601.1:n.4014G>C | ||
| XR_941602.1:n.4014G>C | ||
| XR_941603.1:n.4014G>C | ||
| XR_941604.1:n.4014G>C | ||
| NM_001330578.1:c.3561G>C | NP_001317507.1:p.Val1187= | |
| NM_001330579.1:c.3543G>C | NP_001317508.1:p.Val1181= | |
| XM_005266424.4:c.3699G>C | XP_005266481.1:p.Val1233= | |
| XM_005266430.4:c.3795G>C | XP_005266487.1:p.Val1265= | |
| XM_005266431.4:c.3759G>C | XP_005266488.1:p.Val1253= | |
| XM_006719837.3:c.3699G>C | XP_006719900.1:p.Val1233= | |
| XM_011535117.3:c.3699G>C | XP_011533419.1:p.Val1233= | |
| XM_017020627.1:c.3699G>C | XP_016876116.1:p.Val1233= | |
| NM_000053.4:c.3795G>C MANE Select | NP_000044.2:p.Val1265= | |
| NM_001005918.3:c.3174G>C | NP_001005918.1:p.Val1058= | |
| NM_001330579.2:c.3543G>C | NP_001317508.1:p.Val1181= | |
| NM_001243182.2:c.3462G>C | NP_001230111.1:p.Val1154= | |
| NM_001330578.2:c.3561G>C | NP_001317507.1:p.Val1187= |