Linked Data
ClinVar Variation Id:
1220614
ClinVar RCV Id:
RCV001595176
dbSNP Id:
rs1366725236
gnomAD v2:
19-856204-C-G
gnomAD v3:
19-856204-C-G
gnomAD v4:
19-856204-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.856204C>G , CM000681.2:g.856204C>G | GRCh38 |
| NC_000019.9:g.856204C>G , CM000681.1:g.856204C>G | GRCh37 |
| NC_000019.8:g.807204C>G | NCBI36 |
| NG_007274.1:g.1540C>G , LRG_46:g.1540C>G | |
| NG_009627.1:g.8914C>G , LRG_57:g.8914C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263621.2:c.*40C>G MANE Select | ENSP00000263621.1:n.*40C>G | |
| ENST00000263621.1:c.*40C>G | ENSP00000263621.1:n.*40C>G | |
| ENST00000590230.5:c.*40C>G | ENSP00000466090.1:n.*40C>G | |
| NM_001972.2:c.*40C>G , LRG_57t1:c.*40C>G | NP_001963.1:n.*40C>G | |
| XM_011527775.1:c.*40C>G | XP_011526077.1:n.*40C>G | |
| XM_011527776.1:c.*40C>G | XP_011526078.1:n.*40C>G | |
| NM_001972.3:c.*40C>G | NP_001963.1:n.*40C>G | |
| NM_001972.4:c.*40C>G MANE Select | NP_001963.1:n.*40C>G |