Linked Data
ClinVar Variation Id:
186692
dbSNP Id:
rs730881926
ExAC:
17:56787293 G / A
gnomAD v2:
17-56787293-G-A
gnomAD v3:
17-58709932-G-A
gnomAD v4:
17-58709932-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58709932G>A , CM000679.2:g.58709932G>A | GRCh38 |
| NC_000017.10:g.56787293G>A , CM000679.1:g.56787293G>A | GRCh37 |
| NC_000017.9:g.54142292G>A | NCBI36 |
| NG_023199.1:g.22331G>A , LRG_314:g.22331G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461271.6:c.428G>A | ENSP00000464056.2:p.Arg143Gln | |
| ENST00000697678.1:n.681G>A | ||
| ENST00000697679.1:n.1853G>A | ||
| ENST00000697680.1:c.*1643G>A | ENSP00000513392.1:n.*1643G>A | |
| ENST00000697681.1:c.*1940G>A | ENSP00000513393.1:n.*1940G>A | |
| ENST00000697683.1:c.*1643G>A | ENSP00000513395.1:n.*1643G>A | |
| ENST00000697684.1:n.839G>A | ||
| ENST00000697685.1:c.*1476G>A | ENSP00000513396.1:n.*1476G>A | |
| ENST00000697686.1:c.428G>A | ENSP00000513397.1:p.Arg143Gln | |
| ENST00000697687.1:n.658G>A | ||
| ENST00000697688.1:n.825G>A | ||
| ENST00000697689.1:c.*1315G>A | ENSP00000513398.1:n.*1315G>A | |
| ENST00000697690.1:c.779G>A | ENSP00000513399.1:p.Arg260Gln | |
| ENST00000697691.1:c.*751G>A | ENSP00000513400.1:n.*751G>A | |
| ENST00000697692.1:c.*791G>A | ENSP00000513401.1:n.*791G>A | |
| ENST00000697694.1:c.428G>A | ENSP00000513402.1:p.Arg143Gln | |
| ENST00000697695.1:n.1386G>A | ||
| ENST00000337432.9:c.779G>A MANE Select | ENSP00000336701.4:p.Arg260Gln | |
| ENST00000337432.8:c.779G>A | ENSP00000336701.4:p.Arg260Gln | |
| ENST00000413590.5:c.417G>A | ||
| ENST00000475762.5:c.*1482G>A | ENSP00000432421.1:n.*1482G>A | |
| ENST00000482007.5:c.*207G>A | ENSP00000433332.1:n.*207G>A | |
| ENST00000487525.5:c.*352G>A | ENSP00000431637.1:n.*352G>A | |
| ENST00000578151.1:n.114G>A | ||
| ENST00000581221.5:n.294G>A | ||
| ENST00000583539.5:c.779G>A | ENSP00000463121.1:p.Arg260Gln | |
| ENST00000584617.5:c.501G>A | ||
| ENST00000584804.1:c.74G>A | ENSP00000463658.1:p.Arg25Gln | |
| NM_058216.2:c.779G>A | NP_478123.1:p.Arg260Gln | |
| NR_103872.1:n.683G>A | ||
| XM_006722001.2:c.779G>A | XP_006722064.1:p.Arg260Gln | |
| XM_006722002.2:c.779G>A | XP_006722065.1:p.Arg260Gln | |
| XM_006722004.2:c.428G>A | XP_006722067.1:p.Arg143Gln | |
| XM_006722005.2:c.428G>A | XP_006722068.1:p.Arg143Gln | |
| XM_011525092.1:c.428G>A | XP_011523394.1:p.Arg143Gln | |
| XM_011525093.1:c.428G>A | XP_011523395.1:p.Arg143Gln | |
| XM_011525094.1:c.428G>A | XP_011523396.1:p.Arg143Gln | |
| XR_934513.1:n.997G>A | ||
| XR_934514.1:n.997G>A | ||
| XM_006722001.4:c.779G>A | XP_006722064.1:p.Arg260Gln | |
| XM_006722002.4:c.779G>A | XP_006722065.1:p.Arg260Gln | |
| XM_006722004.3:c.428G>A | XP_006722067.1:p.Arg143Gln | |
| XM_006722005.3:c.428G>A | XP_006722068.1:p.Arg143Gln | |
| XM_011525092.2:c.428G>A | XP_011523394.1:p.Arg143Gln | |
| XM_011525093.2:c.428G>A | XP_011523395.1:p.Arg143Gln | |
| XM_011525094.2:c.428G>A | XP_011523396.1:p.Arg143Gln | |
| XM_017024914.1:c.428G>A | XP_016880403.1:p.Arg143Gln | |
| XM_017024915.1:c.428G>A | XP_016880404.1:p.Arg143Gln | |
| XM_017024916.1:c.428G>A | XP_016880405.1:p.Arg143Gln | |
| XM_017024917.1:c.428G>A | XP_016880406.1:p.Arg143Gln | |
| XM_017024918.2:c.428G>A | XP_016880407.1:p.Arg143Gln | |
| XM_017024919.1:c.428G>A | XP_016880408.1:p.Arg143Gln | |
| XR_934513.3:n.1428G>A | ||
| XR_934514.3:n.1428G>A | ||
| NM_058216.3:c.779G>A MANE Select | NP_478123.1:p.Arg260Gln | |
| NR_103872.2:n.654G>A |