Linked Data
ClinVar Variation Id:
1380744
ClinVar RCV Id:
RCV001886445
dbSNP Id:
rs1397083296
gnomAD v3:
13-51942518-A-G
gnomAD v4:
13-51942518-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.51942518A>G , CM000675.2:g.51942518A>G | GRCh38 |
| NC_000013.10:g.52516654A>G , CM000675.1:g.52516654A>G | GRCh37 |
| NC_000013.9:g.51414655A>G | NCBI36 |
| NG_008806.1:g.73977T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000634296.2:c.*930T>C | ENSP00000489512.2:n.*930T>C | |
| ENST00000673864.2:c.*2024T>C | ENSP00000501045.2:n.*2024T>C | |
| ENST00000674147.2:c.2659T>C | ENSP00000500964.2:p.Phe887Leu | |
| ENST00000242839.10:c.3280T>C MANE Select | ENSP00000242839.5:p.Phe1094Leu | |
| ENST00000344297.9:c.2659T>C | ENSP00000342559.5:p.Phe887Leu | |
| ENST00000400366.6:c.2947T>C | ENSP00000383217.3:p.Phe983Leu | |
| ENST00000448424.7:c.3028T>C | ENSP00000416738.3:p.Phe1010Leu | |
| ENST00000673772.1:c.3046T>C | ENSP00000501168.1:p.Phe1016Leu | |
| ENST00000673867.1:n.3419T>C | ||
| ENST00000674126.1:n.3643T>C | ||
| ENST00000674147.1:c.2215T>C | ENSP00000500964.1:p.Phe739Leu | |
| ENST00000242839.8:c.3280T>C | ENSP00000242839.4:p.Phe1094Leu | |
| ENST00000344297.8:c.2659T>C | ENSP00000342559.5:p.Phe887Leu | |
| ENST00000400366.5:c.2947T>C | ENSP00000383217.3:p.Phe983Leu | |
| ENST00000400370.8:c.1990T>C | ENSP00000383221.3:p.Phe664Leu | |
| ENST00000418097.7:c.3085T>C | ENSP00000393343.2:p.Phe1029Leu | |
| ENST00000448424.6:c.3046T>C | ENSP00000416738.2:p.Phe1016Leu | |
| ENST00000634296.1:c.1058T>C | ||
| ENST00000634308.1:c.*381T>C | ENSP00000489234.1:n.*381T>C | |
| ENST00000634620.1:n.4024T>C | ||
| ENST00000634810.1:n.2625T>C | ||
| ENST00000634844.1:c.3136T>C | ENSP00000489398.1:p.Phe1046Leu | |
| NM_000053.3:c.3280T>C | NP_000044.2:p.Phe1094Leu | |
| NM_001005918.2:c.2659T>C | NP_001005918.1:p.Phe887Leu | |
| NM_001243182.1:c.2947T>C | NP_001230111.1:p.Phe983Leu | |
| XM_005266423.2:c.3184T>C | XP_005266480.1:p.Phe1062Leu | |
| XM_005266424.3:c.3184T>C | XP_005266481.1:p.Phe1062Leu | |
| XM_005266427.2:c.3046T>C | XP_005266484.1:p.Phe1016Leu | |
| XM_005266428.1:c.3028T>C | XP_005266485.1:p.Phe1010Leu | |
| XM_005266430.3:c.3280T>C | XP_005266487.1:p.Phe1094Leu | |
| XM_005266431.2:c.3244T>C | XP_005266488.1:p.Phe1082Leu | |
| XM_005266432.2:c.2794T>C | XP_005266489.1:p.Phe932Leu | |
| XM_006719837.2:c.3184T>C | XP_006719900.1:p.Phe1062Leu | |
| XM_006719838.1:c.1096T>C | XP_006719901.1:p.Phe366Leu | |
| XM_006719839.1:c.913T>C | XP_006719902.1:p.Phe305Leu | |
| XM_011535117.1:c.3184T>C | XP_011533419.1:p.Phe1062Leu | |
| XM_011535118.1:c.3145T>C | XP_011533420.1:p.Phe1049Leu | |
| XM_011535119.1:c.3097T>C | XP_011533421.1:p.Phe1033Leu | |
| XM_011535120.1:c.2866T>C | XP_011533422.1:p.Phe956Leu | |
| XM_011535121.1:c.2767T>C | XP_011533423.1:p.Phe923Leu | |
| XM_011535122.1:c.1948T>C | XP_011533424.1:p.Phe650Leu | |
| XR_941601.1:n.3499T>C | ||
| XR_941602.1:n.3499T>C | ||
| XR_941603.1:n.3499T>C | ||
| XR_941604.1:n.3499T>C | ||
| NM_001330578.1:c.3046T>C | NP_001317507.1:p.Phe1016Leu | |
| NM_001330579.1:c.3028T>C | NP_001317508.1:p.Phe1010Leu | |
| XM_005266424.4:c.3184T>C | XP_005266481.1:p.Phe1062Leu | |
| XM_005266430.4:c.3280T>C | XP_005266487.1:p.Phe1094Leu | |
| XM_005266431.4:c.3244T>C | XP_005266488.1:p.Phe1082Leu | |
| XM_006719837.3:c.3184T>C | XP_006719900.1:p.Phe1062Leu | |
| XM_011535117.3:c.3184T>C | XP_011533419.1:p.Phe1062Leu | |
| XM_017020627.1:c.3184T>C | XP_016876116.1:p.Phe1062Leu | |
| NM_000053.4:c.3280T>C MANE Select | NP_000044.2:p.Phe1094Leu | |
| NM_001005918.3:c.2659T>C | NP_001005918.1:p.Phe887Leu | |
| NM_001330579.2:c.3028T>C | NP_001317508.1:p.Phe1010Leu | |
| NM_001243182.2:c.2947T>C | NP_001230111.1:p.Phe983Leu | |
| NM_001330578.2:c.3046T>C | NP_001317507.1:p.Phe1016Leu |