Linked Data
ClinVar Variation Id:
299894
ClinVar RCV Id:
RCV000263988
RCV000260802
RCV000305137
RCV000359923
RCV000573672
RCV000697839
RCV001252827
RCV003153554
RCV002480091
dbSNP Id:
rs543376293
ExAC:
10:43607642 A / G
gnomAD v2:
10-43607642-A-G
gnomAD v3:
10-43112194-A-G
gnomAD v4:
10-43112194-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43112194A>G , CM000672.2:g.43112194A>G | GRCh38 |
| NC_000010.10:g.43607642A>G , CM000672.1:g.43607642A>G | GRCh37 |
| NC_000010.9:g.42927648A>G | NCBI36 |
| NG_007489.1:g.40126A>G , LRG_518:g.40126A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.1222A>G | ENSP00000480088.2:p.Arg408Gly | |
| ENST00000683007.1:n.1192A>G | ||
| ENST00000683872.1:n.379A>G | ||
| ENST00000340058.6:c.1618A>G | ENSP00000344798.4:p.Arg540Gly | |
| ENST00000355710.8:c.1618A>G MANE Select | ENSP00000347942.3:p.Arg540Gly | |
| ENST00000671844.1:c.*212A>G | ENSP00000500541.1:n.*212A>G | |
| ENST00000672389.1:c.*212A>G | ENSP00000500252.1:n.*212A>G | |
| ENST00000340058.5:c.1618A>G | ENSP00000344798.4:p.Arg540Gly | |
| ENST00000355710.7:c.1618A>G | ENSP00000347942.3:p.Arg540Gly | |
| ENST00000498820.5:c.169A>G | ENSP00000419080.1:p.Arg57Gly | |
| ENST00000615310.4:c.1289+962A>G | ENSP00000480088.1:n.1289+962A>G | |
| NM_020630.4:c.1618A>G , LRG_518t2:c.1618A>G | NP_065681.1:p.Arg540Gly | |
| NM_020975.4:c.1618A>G , LRG_518t1:c.1618A>G | NP_066124.1:p.Arg540Gly | |
| XM_011540027.1:c.1618A>G | XP_011538329.1:p.Arg540Gly | |
| NM_001355216.1:c.856A>G | NP_001342145.1:p.Arg286Gly | |
| NM_020630.5:c.1618A>G | NP_065681.1:p.Arg540Gly | |
| NM_020975.5:c.1618A>G | NP_066124.1:p.Arg540Gly | |
| NM_020975.6:c.1618A>G MANE Select | NP_066124.1:p.Arg540Gly | |
| NM_020630.6:c.1618A>G | NP_065681.1:p.Arg540Gly |