Linked Data
dbSNP Id:
rs771569121
ExAC:
13:52520458 G / A
gnomAD v2:
13-52520458-G-A
gnomAD v4:
13-51946322-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.51946322G>A , CM000675.2:g.51946322G>A | GRCh38 |
| NC_000013.10:g.52520458G>A , CM000675.1:g.52520458G>A | GRCh37 |
| NC_000013.9:g.51418459G>A | NCBI36 |
| NG_008806.1:g.70173C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000634296.2:c.*855C>T | ENSP00000489512.2:n.*855C>T | |
| ENST00000673864.2:c.*1766C>T | ENSP00000501045.2:n.*1766C>T | |
| ENST00000674147.2:c.2401C>T | ENSP00000500964.2:p.Leu801Phe | |
| ENST00000242839.10:c.3022C>T MANE Select | ENSP00000242839.5:p.Leu1008Phe | |
| ENST00000344297.9:c.2401C>T | ENSP00000342559.5:p.Leu801Phe | |
| ENST00000400366.6:c.2689C>T | ENSP00000383217.3:p.Leu897Phe | |
| ENST00000448424.7:c.2770C>T | ENSP00000416738.3:p.Leu924Phe | |
| ENST00000673772.1:c.2788C>T | ENSP00000501168.1:p.Leu930Phe | |
| ENST00000673867.1:n.1169C>T | ||
| ENST00000674126.1:n.3385C>T | ||
| ENST00000674147.1:c.1957C>T | ENSP00000500964.1:p.Leu653Phe | |
| ENST00000242839.8:c.3022C>T | ENSP00000242839.4:p.Leu1008Phe | |
| ENST00000344297.8:c.2401C>T | ENSP00000342559.5:p.Leu801Phe | |
| ENST00000400366.5:c.2689C>T | ENSP00000383217.3:p.Leu897Phe | |
| ENST00000400370.8:c.1732C>T | ENSP00000383221.3:p.Leu578Phe | |
| ENST00000418097.7:c.2866-2031C>T | ENSP00000393343.2:n.2866-2031C>T | |
| ENST00000448424.6:c.2788C>T | ENSP00000416738.2:p.Leu930Phe | |
| ENST00000466629.1:n.242C>T | ||
| ENST00000634296.1:c.983C>T | ||
| ENST00000634308.1:c.*123C>T | ENSP00000489234.1:n.*123C>T | |
| ENST00000634620.1:n.3766C>T | ||
| ENST00000634810.1:n.2367C>T | ||
| ENST00000634844.1:c.2878C>T | ENSP00000489398.1:p.Leu960Phe | |
| ENST00000635406.1:n.368C>T | ||
| NM_000053.3:c.3022C>T | NP_000044.2:p.Leu1008Phe | |
| NM_001005918.2:c.2401C>T | NP_001005918.1:p.Leu801Phe | |
| NM_001243182.1:c.2689C>T | NP_001230111.1:p.Leu897Phe | |
| XM_005266423.2:c.2926C>T | XP_005266480.1:p.Leu976Phe | |
| XM_005266424.3:c.2926C>T | XP_005266481.1:p.Leu976Phe | |
| XM_005266427.2:c.2788C>T | XP_005266484.1:p.Leu930Phe | |
| XM_005266428.1:c.2770C>T | XP_005266485.1:p.Leu924Phe | |
| XM_005266430.3:c.3022C>T | XP_005266487.1:p.Leu1008Phe | |
| XM_005266431.2:c.2986C>T | XP_005266488.1:p.Leu996Phe | |
| XM_005266432.2:c.2536C>T | XP_005266489.1:p.Leu846Phe | |
| XM_006719837.2:c.2926C>T | XP_006719900.1:p.Leu976Phe | |
| XM_006719838.1:c.838C>T | XP_006719901.1:p.Leu280Phe | |
| XM_006719839.1:c.838C>T | XP_006719902.1:p.Leu280Phe | |
| XM_011535117.1:c.2926C>T | XP_011533419.1:p.Leu976Phe | |
| XM_011535118.1:c.2887C>T | XP_011533420.1:p.Leu963Phe | |
| XM_011535119.1:c.3022C>T | XP_011533421.1:p.Leu1008Phe | |
| XM_011535120.1:c.2608C>T | XP_011533422.1:p.Leu870Phe | |
| XM_011535121.1:c.2730+3685C>T | XP_011533423.1:n.2730+3685C>T | |
| XM_011535122.1:c.1690C>T | XP_011533424.1:p.Leu564Phe | |
| XR_941601.1:n.3241C>T | ||
| XR_941602.1:n.3241C>T | ||
| XR_941603.1:n.3241C>T | ||
| XR_941604.1:n.3241C>T | ||
| NM_001330578.1:c.2788C>T | NP_001317507.1:p.Leu930Phe | |
| NM_001330579.1:c.2770C>T | NP_001317508.1:p.Leu924Phe | |
| XM_005266424.4:c.2926C>T | XP_005266481.1:p.Leu976Phe | |
| XM_005266430.4:c.3022C>T | XP_005266487.1:p.Leu1008Phe | |
| XM_005266431.4:c.2986C>T | XP_005266488.1:p.Leu996Phe | |
| XM_006719837.3:c.2926C>T | XP_006719900.1:p.Leu976Phe | |
| XM_011535117.3:c.2926C>T | XP_011533419.1:p.Leu976Phe | |
| XM_017020627.1:c.2926C>T | XP_016876116.1:p.Leu976Phe | |
| NM_000053.4:c.3022C>T MANE Select | NP_000044.2:p.Leu1008Phe | |
| NM_001005918.3:c.2401C>T | NP_001005918.1:p.Leu801Phe | |
| NM_001330579.2:c.2770C>T | NP_001317508.1:p.Leu924Phe | |
| NM_001243182.2:c.2689C>T | NP_001230111.1:p.Leu897Phe | |
| NM_001330578.2:c.2788C>T | NP_001317507.1:p.Leu930Phe |