Linked Data
ClinVar Variation Id:
1578910
ClinVar RCV Id:
RCV002090853
dbSNP Id:
rs1483263021
gnomAD v2:
22-50659401-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50220972T>C , CM000684.2:g.50220972T>C | GRCh38 |
| NC_000022.10:g.50659401T>C , CM000684.1:g.50659401T>C | GRCh37 |
| NC_000022.9:g.49001528T>C | NCBI36 |
| NG_032160.1:g.29000A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248846.10:c.3387A>G MANE Select | ENSP00000248846.5:p.Pro1129= | |
| ENST00000248846.9:c.3387A>G | ENSP00000248846.5:p.Pro1129= | |
| ENST00000439308.6:c.3387A>G | ENSP00000397387.2:p.Pro1129= | |
| ENST00000491449.5:n.1694A>G | ||
| ENST00000498611.5:n.3617+303A>G | ||
| NM_020461.3:c.3387A>G | NP_065194.2:p.Pro1129= | |
| XR_938347.1:n.3952A>G | ||
| XR_938348.1:n.3050-957A>G | ||
| XR_001755343.2:n.3956A>G | ||
| XR_001755344.2:n.3956A>G | ||
| XR_002958720.1:n.3054-957A>G | ||
| XR_938347.2:n.3956A>G | ||
| NM_020461.4:c.3387A>G MANE Select | NP_065194.3:p.Pro1129= |