Linked Data
ClinVar Variation Id:
312375
dbSNP Id:
rs111901413
gnomAD v2:
13-52508744-G-A
gnomAD v3:
13-51934608-G-A
gnomAD v4:
13-51934608-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.51934608G>A , CM000675.2:g.51934608G>A | GRCh38 |
| NC_000013.10:g.52508744G>A , CM000675.1:g.52508744G>A | GRCh37 |
| NC_000013.9:g.51406745G>A | NCBI36 |
| NG_008806.1:g.81887C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000634296.2:c.*2196C>T | ENSP00000489512.2:n.*2196C>T | |
| ENST00000673864.2:c.*3290C>T | ENSP00000501045.2:n.*3290C>T | |
| ENST00000674147.2:c.*148C>T | ENSP00000500964.2:n.*148C>T | |
| ENST00000242839.10:c.*148C>T MANE Select | ENSP00000242839.5:n.*148C>T | |
| ENST00000344297.9:c.*148C>T | ENSP00000342559.5:n.*148C>T | |
| ENST00000448424.7:c.*148C>T | ENSP00000416738.3:n.*148C>T | |
| ENST00000673696.1:n.1869C>T | ||
| ENST00000673867.1:n.4685C>T | ||
| ENST00000673923.1:n.1412C>T | ||
| ENST00000674147.1:c.3481C>T | ENSP00000500964.1:n.3481C>T | |
| ENST00000242839.8:c.*148C>T | ENSP00000242839.4:n.*148C>T | |
| ENST00000344297.8:c.*148C>T | ENSP00000342559.5:n.*148C>T | |
| ENST00000400366.5:c.*148C>T | ENSP00000383217.3:n.*148C>T | |
| ENST00000448424.6:c.*148C>T | ENSP00000416738.2:n.*148C>T | |
| ENST00000634296.1:c.2324C>T | ||
| ENST00000634620.1:n.5290C>T | ||
| ENST00000634810.1:n.3891C>T | ||
| NM_000053.3:c.*148C>T | NP_000044.2:n.*148C>T | |
| NM_001005918.2:c.*148C>T | NP_001005918.1:n.*148C>T | |
| NM_001243182.1:c.*148C>T | NP_001230111.1:n.*148C>T | |
| XM_005266423.2:c.*148C>T | XP_005266480.1:n.*148C>T | |
| XM_005266424.3:c.*148C>T | XP_005266481.1:n.*148C>T | |
| XM_005266427.2:c.*148C>T | XP_005266484.1:n.*148C>T | |
| XM_005266428.1:c.*148C>T | XP_005266485.1:n.*148C>T | |
| XM_005266430.3:c.*148C>T | XP_005266487.1:n.*148C>T | |
| XM_005266431.2:c.*148C>T | XP_005266488.1:n.*148C>T | |
| XM_005266432.2:c.*148C>T | XP_005266489.1:n.*148C>T | |
| XM_006719837.2:c.*148C>T | XP_006719900.1:n.*148C>T | |
| XM_006719838.1:c.*148C>T | XP_006719901.1:n.*148C>T | |
| XM_006719839.1:c.*148C>T | XP_006719902.1:n.*148C>T | |
| XM_011535117.1:c.*148C>T | XP_011533419.1:n.*148C>T | |
| XM_011535118.1:c.*148C>T | XP_011533420.1:n.*148C>T | |
| XM_011535119.1:c.*148C>T | XP_011533421.1:n.*148C>T | |
| XM_011535120.1:c.*148C>T | XP_011533422.1:n.*148C>T | |
| XM_011535121.1:c.*148C>T | XP_011533423.1:n.*148C>T | |
| XM_011535122.1:c.*148C>T | XP_011533424.1:n.*148C>T | |
| XR_941601.1:n.4765C>T | ||
| XR_941602.1:n.4765C>T | ||
| XR_941603.1:n.4765C>T | ||
| XR_941604.1:n.4765C>T | ||
| NM_001330578.1:c.*148C>T | NP_001317507.1:n.*148C>T | |
| NM_001330579.1:c.*148C>T | NP_001317508.1:n.*148C>T | |
| XM_005266424.4:c.*148C>T | XP_005266481.1:n.*148C>T | |
| XM_005266430.4:c.*148C>T | XP_005266487.1:n.*148C>T | |
| XM_005266431.4:c.*148C>T | XP_005266488.1:n.*148C>T | |
| XM_006719837.3:c.*148C>T | XP_006719900.1:n.*148C>T | |
| XM_011535117.3:c.*148C>T | XP_011533419.1:n.*148C>T | |
| XM_017020627.1:c.*148C>T | XP_016876116.1:n.*148C>T | |
| NM_000053.4:c.*148C>T MANE Select | NP_000044.2:n.*148C>T | |
| NM_001005918.3:c.*148C>T | NP_001005918.1:n.*148C>T | |
| NM_001330579.2:c.*148C>T | NP_001317508.1:n.*148C>T | |
| NM_001243182.2:c.*148C>T | NP_001230111.1:n.*148C>T | |
| NM_001330578.2:c.*148C>T | NP_001317507.1:n.*148C>T |