Linked Data
ClinVar Variation Id:
1502733
ClinVar RCV Id:
RCV002022486
dbSNP Id:
rs756580388
ExAC:
13:52532474 C / T
gnomAD v2:
13-52532474-C-T
gnomAD v4:
13-51958338-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.51958338C>T , CM000675.2:g.51958338C>T | GRCh38 |
| NC_000013.10:g.52532474C>T , CM000675.1:g.52532474C>T | GRCh37 |
| NC_000013.9:g.51430475C>T | NCBI36 |
| NG_008806.1:g.58157G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000634296.2:c.*161G>A | ENSP00000489512.2:n.*161G>A | |
| ENST00000673864.2:c.*1072G>A | ENSP00000501045.2:n.*1072G>A | |
| ENST00000674147.2:c.1870-731G>A | ENSP00000500964.2:n.1870-731G>A | |
| ENST00000242839.10:c.2328G>A MANE Select | ENSP00000242839.5:p.Leu776= | |
| ENST00000344297.9:c.1870-731G>A | ENSP00000342559.5:n.1870-731G>A | |
| ENST00000400366.6:c.1995G>A | ENSP00000383217.3:p.Leu665= | |
| ENST00000448424.7:c.2076G>A | ENSP00000416738.3:p.Leu692= | |
| ENST00000673772.1:c.2122-731G>A | ENSP00000501168.1:n.2122-731G>A | |
| ENST00000674147.1:c.1426-731G>A | ENSP00000500964.1:n.1426-731G>A | |
| ENST00000242839.8:c.2328G>A | ENSP00000242839.4:p.Leu776= | |
| ENST00000344297.8:c.1870-731G>A | ENSP00000342559.5:n.1870-731G>A | |
| ENST00000400366.5:c.1995G>A | ENSP00000383217.3:p.Leu665= | |
| ENST00000400370.8:c.1286-8177G>A | ENSP00000383221.3:n.1286-8177G>A | |
| ENST00000418097.7:c.2328G>A | ENSP00000393343.2:p.Leu776= | |
| ENST00000448424.6:c.2122-731G>A | ENSP00000416738.2:n.2122-731G>A | |
| ENST00000634296.1:c.289G>A | ||
| ENST00000634308.1:c.2122-731G>A | ENSP00000489234.1:n.2122-731G>A | |
| ENST00000634620.1:n.2423G>A | ||
| ENST00000634810.1:n.1673G>A | ||
| ENST00000634844.1:c.2184G>A | ENSP00000489398.1:p.Leu728= | |
| ENST00000635406.1:n.212-11860G>A | ||
| NM_000053.3:c.2328G>A | NP_000044.2:p.Leu776= | |
| NM_001005918.2:c.1870-731G>A | NP_001005918.1:n.1870-731G>A | |
| NM_001243182.1:c.1995G>A | NP_001230111.1:p.Leu665= | |
| XM_005266423.2:c.2232G>A | XP_005266480.1:p.Leu744= | |
| XM_005266424.3:c.2232G>A | XP_005266481.1:p.Leu744= | |
| XM_005266427.2:c.2122-731G>A | XP_005266484.1:n.2122-731G>A | |
| XM_005266428.1:c.2076G>A | XP_005266485.1:p.Leu692= | |
| XM_005266430.3:c.2328G>A | XP_005266487.1:p.Leu776= | |
| XM_005266431.2:c.2292G>A | XP_005266488.1:p.Leu764= | |
| XM_005266432.2:c.1870-731G>A | XP_005266489.1:n.1870-731G>A | |
| XM_006719837.2:c.2232G>A | XP_006719900.1:p.Leu744= | |
| XM_006719838.1:c.144G>A | XP_006719901.1:p.Leu48= | |
| XM_006719839.1:c.144G>A | XP_006719902.1:p.Leu48= | |
| XM_011535117.1:c.2232G>A | XP_011533419.1:p.Leu744= | |
| XM_011535118.1:c.2328G>A | XP_011533420.1:p.Leu776= | |
| XM_011535119.1:c.2328G>A | XP_011533421.1:p.Leu776= | |
| XM_011535120.1:c.1914G>A | XP_011533422.1:p.Leu638= | |
| XM_011535121.1:c.2328G>A | XP_011533423.1:p.Leu776= | |
| XM_011535122.1:c.996G>A | XP_011533424.1:p.Leu332= | |
| XR_941601.1:n.2547G>A | ||
| XR_941602.1:n.2547G>A | ||
| XR_941603.1:n.2547G>A | ||
| XR_941604.1:n.2547G>A | ||
| NM_001330578.1:c.2122-731G>A | NP_001317507.1:n.2122-731G>A | |
| NM_001330579.1:c.2076G>A | NP_001317508.1:p.Leu692= | |
| XM_005266424.4:c.2232G>A | XP_005266481.1:p.Leu744= | |
| XM_005266430.4:c.2328G>A | XP_005266487.1:p.Leu776= | |
| XM_005266431.4:c.2292G>A | XP_005266488.1:p.Leu764= | |
| XM_006719837.3:c.2232G>A | XP_006719900.1:p.Leu744= | |
| XM_011535117.3:c.2232G>A | XP_011533419.1:p.Leu744= | |
| XM_017020627.1:c.2232G>A | XP_016876116.1:p.Leu744= | |
| NM_000053.4:c.2328G>A MANE Select | NP_000044.2:p.Leu776= | |
| NM_001005918.3:c.1870-731G>A | NP_001005918.1:n.1870-731G>A | |
| NM_001330579.2:c.2076G>A | NP_001317508.1:p.Leu692= | |
| NM_001243182.2:c.1995G>A | NP_001230111.1:p.Leu665= | |
| NM_001330578.2:c.2122-731G>A | NP_001317507.1:n.2122-731G>A |