Linked Data
ClinVar Variation Id:
13908
ClinVar RCV Id:
RCV000014923
RCV000014922
RCV000182581
RCV001310209
RCV001420921
RCV000654584
RCV001013616
dbSNP Id:
rs75076352
gnomAD v3:
10-43114500-T-G
gnomAD v4:
10-43114500-T-G
COSMIC:
COSM1738369
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43114500T>G , CM000672.2:g.43114500T>G | GRCh38 |
| NC_000010.10:g.43609948T>G , CM000672.1:g.43609948T>G | GRCh37 |
| NC_000010.9:g.42929954T>G | NCBI36 |
| NG_007489.1:g.42432T>G , LRG_518:g.42432T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.1504T>G | ENSP00000480088.2:p.Cys502Gly | |
| ENST00000683007.1:n.1474T>G | ||
| ENST00000683872.1:n.1465T>G | ||
| ENST00000340058.6:c.1900T>G | ENSP00000344798.4:p.Cys634Gly | |
| ENST00000355710.8:c.1900T>G MANE Select | ENSP00000347942.3:p.Cys634Gly | |
| ENST00000671844.1:c.*494T>G | ENSP00000500541.1:n.*494T>G | |
| ENST00000672389.1:c.*494T>G | ENSP00000500252.1:n.*494T>G | |
| ENST00000340058.5:c.1900T>G | ENSP00000344798.4:p.Cys634Gly | |
| ENST00000355710.7:c.1900T>G | ENSP00000347942.3:p.Cys634Gly | |
| ENST00000498820.5:c.451T>G | ENSP00000419080.1:p.Cys151Gly | |
| ENST00000615310.4:c.1289+3268T>G | ENSP00000480088.1:n.1289+3268T>G | |
| NM_020630.4:c.1900T>G , LRG_518t2:c.1900T>G | NP_065681.1:p.Cys634Gly | |
| NM_020975.4:c.1900T>G , LRG_518t1:c.1900T>G | NP_066124.1:p.Cys634Gly | |
| XM_011540027.1:c.1900T>G | XP_011538329.1:p.Cys634Gly | |
| NM_001355216.1:c.1138T>G | NP_001342145.1:p.Cys380Gly | |
| NM_020630.5:c.1900T>G | NP_065681.1:p.Cys634Gly | |
| NM_020975.5:c.1900T>G | NP_066124.1:p.Cys634Gly | |
| NM_020975.6:c.1900T>G MANE Select | NP_066124.1:p.Cys634Gly | |
| NM_020630.6:c.1900T>G | NP_065681.1:p.Cys634Gly |