Linked Data
dbSNP Id:
rs1228090796
gnomAD v2:
13-52518412-A-G
gnomAD v3:
13-51944276-A-G
gnomAD v4:
13-51944276-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.51944276A>G , CM000675.2:g.51944276A>G | GRCh38 |
| NC_000013.10:g.52518412A>G , CM000675.1:g.52518412A>G | GRCh37 |
| NC_000013.9:g.51416413A>G | NCBI36 |
| NG_008806.1:g.72219T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000634296.2:c.*894-1722T>C | ENSP00000489512.2:n.*894-1722T>C | |
| ENST00000673864.2:c.*1820T>C | ENSP00000501045.2:n.*1820T>C | |
| ENST00000674147.2:c.2455T>C | ENSP00000500964.2:p.Phe819Leu | |
| ENST00000242839.10:c.3076T>C MANE Select | ENSP00000242839.5:p.Phe1026Leu | |
| ENST00000344297.9:c.2455T>C | ENSP00000342559.5:p.Phe819Leu | |
| ENST00000400366.6:c.2743T>C | ENSP00000383217.3:p.Phe915Leu | |
| ENST00000448424.7:c.2824T>C | ENSP00000416738.3:p.Phe942Leu | |
| ENST00000673772.1:c.2842T>C | ENSP00000501168.1:p.Phe948Leu | |
| ENST00000673867.1:n.3215T>C | ||
| ENST00000674126.1:n.3439T>C | ||
| ENST00000674147.1:c.2011T>C | ENSP00000500964.1:p.Phe671Leu | |
| ENST00000242839.8:c.3076T>C | ENSP00000242839.4:p.Phe1026Leu | |
| ENST00000344297.8:c.2455T>C | ENSP00000342559.5:p.Phe819Leu | |
| ENST00000400366.5:c.2743T>C | ENSP00000383217.3:p.Phe915Leu | |
| ENST00000400370.8:c.1786T>C | ENSP00000383221.3:p.Phe596Leu | |
| ENST00000418097.7:c.2881T>C | ENSP00000393343.2:p.Phe961Leu | |
| ENST00000448424.6:c.2842T>C | ENSP00000416738.2:p.Phe948Leu | |
| ENST00000466629.1:n.296T>C | ||
| ENST00000634296.1:c.1022-1722T>C | ||
| ENST00000634308.1:c.*177T>C | ENSP00000489234.1:n.*177T>C | |
| ENST00000634620.1:n.3820T>C | ||
| ENST00000634810.1:n.2421T>C | ||
| ENST00000634844.1:c.2932T>C | ENSP00000489398.1:p.Phe978Leu | |
| ENST00000635406.1:n.422T>C | ||
| NM_000053.3:c.3076T>C | NP_000044.2:p.Phe1026Leu | |
| NM_001005918.2:c.2455T>C | NP_001005918.1:p.Phe819Leu | |
| NM_001243182.1:c.2743T>C | NP_001230111.1:p.Phe915Leu | |
| XM_005266423.2:c.2980T>C | XP_005266480.1:p.Phe994Leu | |
| XM_005266424.3:c.2980T>C | XP_005266481.1:p.Phe994Leu | |
| XM_005266427.2:c.2842T>C | XP_005266484.1:p.Phe948Leu | |
| XM_005266428.1:c.2824T>C | XP_005266485.1:p.Phe942Leu | |
| XM_005266430.3:c.3076T>C | XP_005266487.1:p.Phe1026Leu | |
| XM_005266431.2:c.3040T>C | XP_005266488.1:p.Phe1014Leu | |
| XM_005266432.2:c.2590T>C | XP_005266489.1:p.Phe864Leu | |
| XM_006719837.2:c.2980T>C | XP_006719900.1:p.Phe994Leu | |
| XM_006719838.1:c.892T>C | XP_006719901.1:p.Phe298Leu | |
| XM_006719839.1:c.877-1722T>C | XP_006719902.1:n.877-1722T>C | |
| XM_011535117.1:c.2980T>C | XP_011533419.1:p.Phe994Leu | |
| XM_011535118.1:c.2941T>C | XP_011533420.1:p.Phe981Leu | |
| XM_011535119.1:c.3061-1722T>C | XP_011533421.1:n.3061-1722T>C | |
| XM_011535120.1:c.2662T>C | XP_011533422.1:p.Phe888Leu | |
| XM_011535121.1:c.2731-1722T>C | XP_011533423.1:n.2731-1722T>C | |
| XM_011535122.1:c.1744T>C | XP_011533424.1:p.Phe582Leu | |
| XR_941601.1:n.3295T>C | ||
| XR_941602.1:n.3295T>C | ||
| XR_941603.1:n.3295T>C | ||
| XR_941604.1:n.3295T>C | ||
| NM_001330578.1:c.2842T>C | NP_001317507.1:p.Phe948Leu | |
| NM_001330579.1:c.2824T>C | NP_001317508.1:p.Phe942Leu | |
| XM_005266424.4:c.2980T>C | XP_005266481.1:p.Phe994Leu | |
| XM_005266430.4:c.3076T>C | XP_005266487.1:p.Phe1026Leu | |
| XM_005266431.4:c.3040T>C | XP_005266488.1:p.Phe1014Leu | |
| XM_006719837.3:c.2980T>C | XP_006719900.1:p.Phe994Leu | |
| XM_011535117.3:c.2980T>C | XP_011533419.1:p.Phe994Leu | |
| XM_017020627.1:c.2980T>C | XP_016876116.1:p.Phe994Leu | |
| NM_000053.4:c.3076T>C MANE Select | NP_000044.2:p.Phe1026Leu | |
| NM_001005918.3:c.2455T>C | NP_001005918.1:p.Phe819Leu | |
| NM_001330579.2:c.2824T>C | NP_001317508.1:p.Phe942Leu | |
| NM_001243182.2:c.2743T>C | NP_001230111.1:p.Phe915Leu | |
| NM_001330578.2:c.2842T>C | NP_001317507.1:p.Phe948Leu |