Linked Data
ClinVar Variation Id:
1613772
ClinVar RCV Id:
RCV002183266
dbSNP Id:
rs758028526
ExAC:
11:61725786 G / A
gnomAD v2:
11-61725786-G-A
gnomAD v3:
11-61958314-G-A
gnomAD v4:
11-61958314-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61958314G>A , CM000673.2:g.61958314G>A | GRCh38 |
| NC_000011.9:g.61725786G>A , CM000673.1:g.61725786G>A | GRCh37 |
| NC_000011.8:g.61482362G>A | NCBI36 |
| NG_009033.1:g.13431G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378043.9:c.867+16G>A MANE Select | ENSP00000367282.4:n.867+16G>A | |
| ENST00000378043.8:c.867+16G>A | ENSP00000367282.4:n.867+16G>A | |
| ENST00000449131.6:c.687+16G>A | ENSP00000399709.2:n.687+16G>A | |
| ENST00000524877.5:n.1315G>A | ||
| ENST00000524926.5:c.883G>A | ENSP00000432681.1:p.Ala295Thr | |
| ENST00000526988.1:c.565G>A | ENSP00000433195.1:p.Ala189Thr | |
| ENST00000529265.5:n.806G>A | ||
| ENST00000534553.5:c.163+2363G>A | ENSP00000431189.1:n.163+2363G>A | |
| NM_001139443.1:c.687+16G>A | NP_001132915.1:n.687+16G>A | |
| NM_001300786.1:c.687+16G>A | NP_001287715.1:n.687+16G>A | |
| NM_001300787.1:c.687+16G>A | NP_001287716.1:n.687+16G>A | |
| NM_004183.3:c.867+16G>A | NP_004174.1:n.867+16G>A | |
| XM_005274210.2:c.867+16G>A | XP_005274267.1:n.867+16G>A | |
| XM_005274215.2:c.549+16G>A | XP_005274272.1:n.549+16G>A | |
| XM_005274216.2:c.703G>A | XP_005274273.1:p.Ala235Thr | |
| XM_005274218.3:c.565G>A | XP_005274275.1:p.Ala189Thr | |
| XM_005274219.2:c.867+16G>A | XP_005274276.1:n.867+16G>A | |
| XM_005274221.2:c.714+850G>A | XP_005274278.1:n.714+850G>A | |
| XM_011545229.1:c.867+16G>A | XP_011543531.1:n.867+16G>A | |
| XM_011545230.1:c.774+16G>A | XP_011543532.1:n.774+16G>A | |
| XM_011545231.1:c.549+16G>A | XP_011543533.1:n.549+16G>A | |
| XM_011545232.1:c.883G>A | XP_011543534.1:p.Ala295Thr | |
| NM_001363591.1:c.549+16G>A | NP_001350520.1:n.549+16G>A | |
| NM_001363592.1:c.883G>A | NP_001350521.1:p.Ala295Thr | |
| NM_001363593.1:c.-293G>A | NP_001350522.1:n.-293G>A | |
| NR_134580.1:n.1463G>A | ||
| XM_005274210.4:c.867+16G>A | XP_005274267.1:n.867+16G>A | |
| XM_005274215.4:c.549+16G>A | XP_005274272.1:n.549+16G>A | |
| XM_005274216.4:c.703G>A | XP_005274273.1:p.Ala235Thr | |
| XM_005274219.4:c.867+16G>A | XP_005274276.1:n.867+16G>A | |
| XM_005274221.4:c.714+850G>A | XP_005274278.1:n.714+850G>A | |
| XM_011545229.3:c.867+16G>A | XP_011543531.1:n.867+16G>A | |
| XM_011545230.3:c.774+16G>A | XP_011543532.1:n.774+16G>A | |
| XM_017018230.2:c.565G>A | XP_016873719.1:p.Ala189Thr | |
| XR_001747952.2:n.1381G>A | ||
| XR_001747953.2:n.1557+16G>A | ||
| XR_001747954.2:n.1404+850G>A | ||
| XR_001748245.1:n.415C>T | ||
| XR_002957249.1:n.415C>T | ||
| NM_004183.4:c.867+16G>A MANE Select | NP_004174.1:n.867+16G>A | |
| NM_001139443.2:c.687+16G>A | NP_001132915.1:n.687+16G>A | |
| NM_001300786.2:c.687+16G>A | NP_001287715.1:n.687+16G>A | |
| NM_001300787.2:c.687+16G>A | NP_001287716.1:n.687+16G>A | |
| NM_001363591.2:c.549+16G>A | NP_001350520.1:n.549+16G>A | |
| NM_001363593.2:c.-293G>A | NP_001350522.1:n.-293G>A | |
| NR_134580.2:n.996G>A |