Linked Data
ClinVar Variation Id:
329970
ClinVar RCV Id:
RCV000402984
dbSNP Id:
rs886054600
gnomAD v4:
19-51379983-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.51379983G>C , CM000681.2:g.51379983G>C | GRCh38 |
| NC_000019.9:g.51883237G>C , CM000681.1:g.51883237G>C | GRCh37 |
| NC_000019.8:g.56575049G>C | NCBI36 |
| NG_012924.1:g.12974C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000596399.2:c.*218C>G MANE Select | ENSP00000472090.2:n.*218C>G | |
| ENST00000221973.7:c.*218C>G | ENSP00000221973.2:n.*218C>G | |
| ENST00000596399.1:c.*218C>G | ENSP00000472090.1:n.*218C>G | |
| NM_001161748.1:c.*218C>G | NP_001155220.1:n.*218C>G | |
| NM_030657.3:c.*218C>G | NP_085915.2:n.*218C>G | |
| NM_001161748.2:c.*218C>G MANE Select | NP_001155220.1:n.*218C>G | |
| NM_030657.4:c.*218C>G | NP_085915.2:n.*218C>G |