Linked Data
ClinVar Variation Id:
477337
dbSNP Id:
rs567241943
ExAC:
10:43610089 C / G
gnomAD v2:
10-43610089-C-G
gnomAD v3:
10-43114641-C-G
gnomAD v4:
10-43114641-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43114641C>G , CM000672.2:g.43114641C>G | GRCh38 |
| NC_000010.10:g.43610089C>G , CM000672.1:g.43610089C>G | GRCh37 |
| NC_000010.9:g.42930095C>G | NCBI36 |
| NG_007489.1:g.42573C>G , LRG_518:g.42573C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.1645C>G | ENSP00000480088.2:p.Gln549Glu | |
| ENST00000683007.1:n.1615C>G | ||
| ENST00000683872.1:n.1606C>G | ||
| ENST00000340058.6:c.2041C>G | ENSP00000344798.4:p.Gln681Glu | |
| ENST00000355710.8:c.2041C>G MANE Select | ENSP00000347942.3:p.Gln681Glu | |
| ENST00000671844.1:c.*635C>G | ENSP00000500541.1:n.*635C>G | |
| ENST00000672389.1:c.*635C>G | ENSP00000500252.1:n.*635C>G | |
| ENST00000340058.5:c.2041C>G | ENSP00000344798.4:p.Gln681Glu | |
| ENST00000355710.7:c.2041C>G | ENSP00000347942.3:p.Gln681Glu | |
| ENST00000615310.4:c.1289+3409C>G | ENSP00000480088.1:n.1289+3409C>G | |
| NM_020630.4:c.2041C>G , LRG_518t2:c.2041C>G | NP_065681.1:p.Gln681Glu | |
| NM_020975.4:c.2041C>G , LRG_518t1:c.2041C>G | NP_066124.1:p.Gln681Glu | |
| XM_011540027.1:c.2041C>G | XP_011538329.1:p.Gln681Glu | |
| NM_001355216.1:c.1279C>G | NP_001342145.1:p.Gln427Glu | |
| NM_020630.5:c.2041C>G | NP_065681.1:p.Gln681Glu | |
| NM_020975.5:c.2041C>G | NP_066124.1:p.Gln681Glu | |
| NM_020975.6:c.2041C>G MANE Select | NP_066124.1:p.Gln681Glu | |
| NM_020630.6:c.2041C>G | NP_065681.1:p.Gln681Glu |