Linked Data
ClinVar Variation Id:
340855
ClinVar RCV Id:
RCV000358811
dbSNP Id:
rs192171507
gnomAD v2:
22-21242738-C-G
gnomAD v3:
22-20888450-C-G
gnomAD v4:
22-20888450-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20888450C>G , CM000684.2:g.20888450C>G | GRCh38 |
| NC_000022.10:g.21242738C>G , CM000684.1:g.21242738C>G | GRCh37 |
| NC_000022.9:g.19572738C>G | NCBI36 |
| NG_012152.1:g.34447C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215730.12:c.*614C>G MANE Select | ENSP00000215730.6:n.*614C>G | |
| ENST00000215730.11:c.*614C>G | ENSP00000215730.6:n.*614C>G | |
| NM_004782.3:c.*614C>G | NP_004773.1:n.*614C>G | |
| NM_004782.4:c.*614C>G MANE Select | NP_004773.1:n.*614C>G |