Linked Data
ClinVar Variation Id:
2145365
ClinVar RCV Id:
RCV003064987
dbSNP Id:
rs771501259
gnomAD v2:
13-52548542-C-G
gnomAD v4:
13-51974406-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.51974406C>G , CM000675.2:g.51974406C>G | GRCh38 |
| NC_000013.10:g.52548542C>G , CM000675.1:g.52548542C>G | GRCh37 |
| NC_000013.9:g.51446543C>G | NCBI36 |
| NG_008806.1:g.42089G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000634296.2:c.814G>C | ENSP00000489512.2:p.Val272Leu | |
| ENST00000673864.2:c.814G>C | ENSP00000501045.2:p.Val272Leu | |
| ENST00000674147.2:c.814G>C | ENSP00000500964.2:p.Val272Leu | |
| ENST00000242839.10:c.814G>C MANE Select | ENSP00000242839.5:p.Val272Leu | |
| ENST00000344297.9:c.814G>C | ENSP00000342559.5:p.Val272Leu | |
| ENST00000400366.6:c.802+12G>C | ENSP00000383217.3:n.802+12G>C | |
| ENST00000448424.7:c.814G>C | ENSP00000416738.3:p.Val272Leu | |
| ENST00000673772.1:c.814G>C | ENSP00000501168.1:p.Val272Leu | |
| ENST00000674078.1:n.919G>C | ||
| ENST00000674147.1:c.370G>C | ENSP00000500964.1:p.Val124Leu | |
| ENST00000242839.8:c.814G>C | ENSP00000242839.4:p.Val272Leu | |
| ENST00000344297.8:c.814G>C | ENSP00000342559.5:p.Val272Leu | |
| ENST00000400366.5:c.802+12G>C | ENSP00000383217.3:n.802+12G>C | |
| ENST00000400370.8:c.814G>C | ENSP00000383221.3:p.Val272Leu | |
| ENST00000418097.7:c.814G>C | ENSP00000393343.2:p.Val272Leu | |
| ENST00000448424.6:c.814G>C | ENSP00000416738.2:p.Val272Leu | |
| ENST00000482841.6:n.935G>C | ||
| ENST00000634308.1:c.814G>C | ENSP00000489234.1:p.Val272Leu | |
| ENST00000634844.1:c.814G>C | ENSP00000489398.1:p.Val272Leu | |
| ENST00000635406.1:n.212-27928G>C | ||
| NM_000053.3:c.814G>C | NP_000044.2:p.Val272Leu | |
| NM_001005918.2:c.814G>C | NP_001005918.1:p.Val272Leu | |
| NM_001243182.1:c.802+12G>C | NP_001230111.1:n.802+12G>C | |
| XM_005266423.2:c.718G>C | XP_005266480.1:p.Val240Leu | |
| XM_005266424.3:c.718G>C | XP_005266481.1:p.Val240Leu | |
| XM_005266427.2:c.814G>C | XP_005266484.1:p.Val272Leu | |
| XM_005266428.1:c.814G>C | XP_005266485.1:p.Val272Leu | |
| XM_005266430.3:c.814G>C | XP_005266487.1:p.Val272Leu | |
| XM_005266431.2:c.778G>C | XP_005266488.1:p.Val260Leu | |
| XM_005266432.2:c.814G>C | XP_005266489.1:p.Val272Leu | |
| XM_006719837.2:c.718G>C | XP_006719900.1:p.Val240Leu | |
| XM_011535117.1:c.718G>C | XP_011533419.1:p.Val240Leu | |
| XM_011535118.1:c.814G>C | XP_011533420.1:p.Val272Leu | |
| XM_011535119.1:c.814G>C | XP_011533421.1:p.Val272Leu | |
| XM_011535120.1:c.814G>C | XP_011533422.1:p.Val272Leu | |
| XM_011535121.1:c.814G>C | XP_011533423.1:p.Val272Leu | |
| XR_941601.1:n.1033G>C | ||
| XR_941602.1:n.1033G>C | ||
| XR_941603.1:n.1033G>C | ||
| XR_941604.1:n.1033G>C | ||
| NM_001330578.1:c.814G>C | NP_001317507.1:p.Val272Leu | |
| NM_001330579.1:c.814G>C | NP_001317508.1:p.Val272Leu | |
| XM_005266424.4:c.718G>C | XP_005266481.1:p.Val240Leu | |
| XM_005266430.4:c.814G>C | XP_005266487.1:p.Val272Leu | |
| XM_005266431.4:c.778G>C | XP_005266488.1:p.Val260Leu | |
| XM_006719837.3:c.718G>C | XP_006719900.1:p.Val240Leu | |
| XM_011535117.3:c.718G>C | XP_011533419.1:p.Val240Leu | |
| XM_017020627.1:c.718G>C | XP_016876116.1:p.Val240Leu | |
| NM_000053.4:c.814G>C MANE Select | NP_000044.2:p.Val272Leu | |
| NM_001005918.3:c.814G>C | NP_001005918.1:p.Val272Leu | |
| NM_001330579.2:c.814G>C | NP_001317508.1:p.Val272Leu | |
| NM_001243182.2:c.802+12G>C | NP_001230111.1:n.802+12G>C | |
| NM_001330578.2:c.814G>C | NP_001317507.1:p.Val272Leu |