Linked Data
ClinVar Variation Id:
636003
dbSNP Id:
rs748351421
ExAC:
11:61727038 C / A
gnomAD v2:
11-61727038-C-A
gnomAD v4:
11-61959566-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61959566C>A , CM000673.2:g.61959566C>A | GRCh38 |
| NC_000011.9:g.61727038C>A , CM000673.1:g.61727038C>A | GRCh37 |
| NC_000011.8:g.61483614C>A | NCBI36 |
| NG_009033.1:g.14683C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378043.9:c.936C>A MANE Select | ENSP00000367282.4:p.Asp312Glu | |
| ENST00000378043.8:c.936C>A | ENSP00000367282.4:p.Asp312Glu | |
| ENST00000449131.6:c.756C>A | ENSP00000399709.2:p.Asp252Glu | |
| ENST00000524877.5:n.2567C>A | ||
| ENST00000524926.5:c.1139C>A | ENSP00000432681.1:p.Thr380Lys | |
| ENST00000526988.1:c.821C>A | ENSP00000433195.1:p.Thr274Lys | |
| ENST00000534553.5:c.164-2689C>A | ENSP00000431189.1:n.164-2689C>A | |
| NM_001139443.1:c.756C>A | NP_001132915.1:p.Asp252Glu | |
| NM_001300786.1:c.688-326C>A | NP_001287715.1:n.688-326C>A | |
| NM_001300787.1:c.756C>A | NP_001287716.1:p.Asp252Glu | |
| NM_004183.3:c.936C>A | NP_004174.1:p.Asp312Glu | |
| XM_005274210.2:c.936C>A | XP_005274267.1:p.Asp312Glu | |
| XM_005274215.2:c.618C>A | XP_005274272.1:p.Asp206Glu | |
| XM_005274216.2:c.959C>A | XP_005274273.1:p.Thr320Lys | |
| XM_005274218.3:c.821C>A | XP_005274275.1:p.Thr274Lys | |
| XM_005274219.2:c.867+1268C>A | XP_005274276.1:n.867+1268C>A | |
| XM_005274221.2:c.714+2102C>A | XP_005274278.1:n.714+2102C>A | |
| XM_011545229.1:c.936C>A | XP_011543531.1:p.Asp312Glu | |
| XM_011545230.1:c.843C>A | XP_011543532.1:p.Asp281Glu | |
| XM_011545231.1:c.618C>A | XP_011543533.1:p.Asp206Glu | |
| XM_011545232.1:c.1139C>A | XP_011543534.1:p.Thr380Lys | |
| XM_011545233.1:c.93C>A | XP_011543535.1:p.Asp31Glu | |
| NM_001363591.1:c.618C>A | NP_001350520.1:p.Asp206Glu | |
| NM_001363592.1:c.1139C>A | NP_001350521.1:p.Thr380Lys | |
| NM_001363593.1:c.-37C>A | NP_001350522.1:n.-37C>A | |
| NR_134580.1:n.1719C>A | ||
| XM_005274210.4:c.936C>A | XP_005274267.1:p.Asp312Glu | |
| XM_005274215.4:c.618C>A | XP_005274272.1:p.Asp206Glu | |
| XM_005274216.4:c.959C>A | XP_005274273.1:p.Thr320Lys | |
| XM_005274219.4:c.867+1268C>A | XP_005274276.1:n.867+1268C>A | |
| XM_005274221.4:c.714+2102C>A | XP_005274278.1:n.714+2102C>A | |
| XM_011545229.3:c.936C>A | XP_011543531.1:p.Asp312Glu | |
| XM_011545230.3:c.843C>A | XP_011543532.1:p.Asp281Glu | |
| XM_011545233.3:c.93C>A | XP_011543535.1:p.Asp31Glu | |
| XM_017018230.2:c.821C>A | XP_016873719.1:p.Thr274Lys | |
| XR_001747952.2:n.1637C>A | ||
| XR_001747953.2:n.1557+1268C>A | ||
| XR_001747954.2:n.1404+2102C>A | ||
| XR_001748245.1:n.196+166G>T | ||
| XR_002957249.1:n.196+166G>T | ||
| NM_004183.4:c.936C>A MANE Select | NP_004174.1:p.Asp312Glu | |
| NM_001139443.2:c.756C>A | NP_001132915.1:p.Asp252Glu | |
| NM_001300786.2:c.688-326C>A | NP_001287715.1:n.688-326C>A | |
| NM_001300787.2:c.756C>A | NP_001287716.1:p.Asp252Glu | |
| NM_001363591.2:c.618C>A | NP_001350520.1:p.Asp206Glu | |
| NM_001363593.2:c.-37C>A | NP_001350522.1:n.-37C>A | |
| NR_134580.2:n.1252C>A |