Linked Data
ClinVar Variation Id:
2083623
ClinVar RCV Id:
RCV003002678
dbSNP Id:
rs371840514
gnomAD v2:
13-52520427-G-T
gnomAD v4:
13-51946291-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.51946291G>T , CM000675.2:g.51946291G>T | GRCh38 |
| NC_000013.10:g.52520427G>T , CM000675.1:g.52520427G>T | GRCh37 |
| NC_000013.9:g.51418428G>T | NCBI36 |
| NG_008806.1:g.70204C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000634296.2:c.*886C>A | ENSP00000489512.2:n.*886C>A | |
| ENST00000673864.2:c.*1797C>A | ENSP00000501045.2:n.*1797C>A | |
| ENST00000674147.2:c.2432C>A | ENSP00000500964.2:p.Ala811Glu | |
| ENST00000242839.10:c.3053C>A MANE Select | ENSP00000242839.5:p.Ala1018Glu | |
| ENST00000344297.9:c.2432C>A | ENSP00000342559.5:p.Ala811Glu | |
| ENST00000400366.6:c.2720C>A | ENSP00000383217.3:p.Ala907Glu | |
| ENST00000448424.7:c.2801C>A | ENSP00000416738.3:p.Ala934Glu | |
| ENST00000673772.1:c.2819C>A | ENSP00000501168.1:p.Ala940Glu | |
| ENST00000673867.1:n.1200C>A | ||
| ENST00000674126.1:n.3416C>A | ||
| ENST00000674147.1:c.1988C>A | ENSP00000500964.1:p.Ala663Glu | |
| ENST00000242839.8:c.3053C>A | ENSP00000242839.4:p.Ala1018Glu | |
| ENST00000344297.8:c.2432C>A | ENSP00000342559.5:p.Ala811Glu | |
| ENST00000400366.5:c.2720C>A | ENSP00000383217.3:p.Ala907Glu | |
| ENST00000400370.8:c.1763C>A | ENSP00000383221.3:p.Ala588Glu | |
| ENST00000418097.7:c.2866-2000C>A | ENSP00000393343.2:n.2866-2000C>A | |
| ENST00000448424.6:c.2819C>A | ENSP00000416738.2:p.Ala940Glu | |
| ENST00000466629.1:n.273C>A | ||
| ENST00000634296.1:c.1014C>A | ||
| ENST00000634308.1:c.*154C>A | ENSP00000489234.1:n.*154C>A | |
| ENST00000634620.1:n.3797C>A | ||
| ENST00000634810.1:n.2398C>A | ||
| ENST00000634844.1:c.2909C>A | ENSP00000489398.1:p.Ala970Glu | |
| ENST00000635406.1:n.399C>A | ||
| NM_000053.3:c.3053C>A | NP_000044.2:p.Ala1018Glu | |
| NM_001005918.2:c.2432C>A | NP_001005918.1:p.Ala811Glu | |
| NM_001243182.1:c.2720C>A | NP_001230111.1:p.Ala907Glu | |
| XM_005266423.2:c.2957C>A | XP_005266480.1:p.Ala986Glu | |
| XM_005266424.3:c.2957C>A | XP_005266481.1:p.Ala986Glu | |
| XM_005266427.2:c.2819C>A | XP_005266484.1:p.Ala940Glu | |
| XM_005266428.1:c.2801C>A | XP_005266485.1:p.Ala934Glu | |
| XM_005266430.3:c.3053C>A | XP_005266487.1:p.Ala1018Glu | |
| XM_005266431.2:c.3017C>A | XP_005266488.1:p.Ala1006Glu | |
| XM_005266432.2:c.2567C>A | XP_005266489.1:p.Ala856Glu | |
| XM_006719837.2:c.2957C>A | XP_006719900.1:p.Ala986Glu | |
| XM_006719838.1:c.869C>A | XP_006719901.1:p.Ala290Glu | |
| XM_006719839.1:c.869C>A | XP_006719902.1:p.Ala290Glu | |
| XM_011535117.1:c.2957C>A | XP_011533419.1:p.Ala986Glu | |
| XM_011535118.1:c.2918C>A | XP_011533420.1:p.Ala973Glu | |
| XM_011535119.1:c.3053C>A | XP_011533421.1:p.Ala1018Glu | |
| XM_011535120.1:c.2639C>A | XP_011533422.1:p.Ala880Glu | |
| XM_011535121.1:c.2730+3716C>A | XP_011533423.1:n.2730+3716C>A | |
| XM_011535122.1:c.1721C>A | XP_011533424.1:p.Ala574Glu | |
| XR_941601.1:n.3272C>A | ||
| XR_941602.1:n.3272C>A | ||
| XR_941603.1:n.3272C>A | ||
| XR_941604.1:n.3272C>A | ||
| NM_001330578.1:c.2819C>A | NP_001317507.1:p.Ala940Glu | |
| NM_001330579.1:c.2801C>A | NP_001317508.1:p.Ala934Glu | |
| XM_005266424.4:c.2957C>A | XP_005266481.1:p.Ala986Glu | |
| XM_005266430.4:c.3053C>A | XP_005266487.1:p.Ala1018Glu | |
| XM_005266431.4:c.3017C>A | XP_005266488.1:p.Ala1006Glu | |
| XM_006719837.3:c.2957C>A | XP_006719900.1:p.Ala986Glu | |
| XM_011535117.3:c.2957C>A | XP_011533419.1:p.Ala986Glu | |
| XM_017020627.1:c.2957C>A | XP_016876116.1:p.Ala986Glu | |
| NM_000053.4:c.3053C>A MANE Select | NP_000044.2:p.Ala1018Glu | |
| NM_001005918.3:c.2432C>A | NP_001005918.1:p.Ala811Glu | |
| NM_001330579.2:c.2801C>A | NP_001317508.1:p.Ala934Glu | |
| NM_001243182.2:c.2720C>A | NP_001230111.1:p.Ala907Glu | |
| NM_001330578.2:c.2819C>A | NP_001317507.1:p.Ala940Glu |