Linked Data
ClinVar Variation Id:
157945
dbSNP Id:
rs587783309
gnomAD v3:
13-51944164-G-A
gnomAD v4:
13-51944164-G-A
COSMIC:
COSM4048036
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.51944164G>A , CM000675.2:g.51944164G>A | GRCh38 |
| NC_000013.10:g.52518300G>A , CM000675.1:g.52518300G>A | GRCh37 |
| NC_000013.9:g.51416301G>A | NCBI36 |
| NG_008806.1:g.72331C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000634296.2:c.*894-1610C>T | ENSP00000489512.2:n.*894-1610C>T | |
| ENST00000673864.2:c.*1932C>T | ENSP00000501045.2:n.*1932C>T | |
| ENST00000674147.2:c.2567C>T | ENSP00000500964.2:p.Ala856Val | |
| ENST00000242839.10:c.3188C>T MANE Select | ENSP00000242839.5:p.Ala1063Val | |
| ENST00000344297.9:c.2567C>T | ENSP00000342559.5:p.Ala856Val | |
| ENST00000400366.6:c.2855C>T | ENSP00000383217.3:p.Ala952Val | |
| ENST00000448424.7:c.2936C>T | ENSP00000416738.3:p.Ala979Val | |
| ENST00000673772.1:c.2954C>T | ENSP00000501168.1:p.Ala985Val | |
| ENST00000673867.1:n.3327C>T | ||
| ENST00000674126.1:n.3551C>T | ||
| ENST00000674147.1:c.2123C>T | ENSP00000500964.1:p.Ala708Val | |
| ENST00000242839.8:c.3188C>T | ENSP00000242839.4:p.Ala1063Val | |
| ENST00000344297.8:c.2567C>T | ENSP00000342559.5:p.Ala856Val | |
| ENST00000400366.5:c.2855C>T | ENSP00000383217.3:p.Ala952Val | |
| ENST00000400370.8:c.1898C>T | ENSP00000383221.3:p.Ala633Val | |
| ENST00000418097.7:c.2993C>T | ENSP00000393343.2:p.Ala998Val | |
| ENST00000448424.6:c.2954C>T | ENSP00000416738.2:p.Ala985Val | |
| ENST00000466629.1:n.408C>T | ||
| ENST00000634296.1:c.1022-1610C>T | ||
| ENST00000634308.1:c.*289C>T | ENSP00000489234.1:n.*289C>T | |
| ENST00000634620.1:n.3932C>T | ||
| ENST00000634810.1:n.2533C>T | ||
| ENST00000634844.1:c.3044C>T | ENSP00000489398.1:p.Ala1015Val | |
| NM_000053.3:c.3188C>T | NP_000044.2:p.Ala1063Val | |
| NM_001005918.2:c.2567C>T | NP_001005918.1:p.Ala856Val | |
| NM_001243182.1:c.2855C>T | NP_001230111.1:p.Ala952Val | |
| XM_005266423.2:c.3092C>T | XP_005266480.1:p.Ala1031Val | |
| XM_005266424.3:c.3092C>T | XP_005266481.1:p.Ala1031Val | |
| XM_005266427.2:c.2954C>T | XP_005266484.1:p.Ala985Val | |
| XM_005266428.1:c.2936C>T | XP_005266485.1:p.Ala979Val | |
| XM_005266430.3:c.3188C>T | XP_005266487.1:p.Ala1063Val | |
| XM_005266431.2:c.3152C>T | XP_005266488.1:p.Ala1051Val | |
| XM_005266432.2:c.2702C>T | XP_005266489.1:p.Ala901Val | |
| XM_006719837.2:c.3092C>T | XP_006719900.1:p.Ala1031Val | |
| XM_006719838.1:c.1004C>T | XP_006719901.1:p.Ala335Val | |
| XM_006719839.1:c.877-1610C>T | XP_006719902.1:n.877-1610C>T | |
| XM_011535117.1:c.3092C>T | XP_011533419.1:p.Ala1031Val | |
| XM_011535118.1:c.3053C>T | XP_011533420.1:p.Ala1018Val | |
| XM_011535119.1:c.3061-1610C>T | XP_011533421.1:n.3061-1610C>T | |
| XM_011535120.1:c.2774C>T | XP_011533422.1:p.Ala925Val | |
| XM_011535121.1:c.2731-1610C>T | XP_011533423.1:n.2731-1610C>T | |
| XM_011535122.1:c.1856C>T | XP_011533424.1:p.Ala619Val | |
| XR_941601.1:n.3407C>T | ||
| XR_941602.1:n.3407C>T | ||
| XR_941603.1:n.3407C>T | ||
| XR_941604.1:n.3407C>T | ||
| NM_001330578.1:c.2954C>T | NP_001317507.1:p.Ala985Val | |
| NM_001330579.1:c.2936C>T | NP_001317508.1:p.Ala979Val | |
| XM_005266424.4:c.3092C>T | XP_005266481.1:p.Ala1031Val | |
| XM_005266430.4:c.3188C>T | XP_005266487.1:p.Ala1063Val | |
| XM_005266431.4:c.3152C>T | XP_005266488.1:p.Ala1051Val | |
| XM_006719837.3:c.3092C>T | XP_006719900.1:p.Ala1031Val | |
| XM_011535117.3:c.3092C>T | XP_011533419.1:p.Ala1031Val | |
| XM_017020627.1:c.3092C>T | XP_016876116.1:p.Ala1031Val | |
| NM_000053.4:c.3188C>T MANE Select | NP_000044.2:p.Ala1063Val | |
| NM_001005918.3:c.2567C>T | NP_001005918.1:p.Ala856Val | |
| NM_001330579.2:c.2936C>T | NP_001317508.1:p.Ala979Val | |
| NM_001243182.2:c.2855C>T | NP_001230111.1:p.Ala952Val | |
| NM_001330578.2:c.2954C>T | NP_001317507.1:p.Ala985Val |