Linked Data
ClinVar Variation Id:
320682
ClinVar RCV Id:
RCV000325476
dbSNP Id:
rs535218815
gnomAD v3:
16-81378560-C-G
gnomAD v4:
16-81378560-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.81378560C>G , CM000678.2:g.81378560C>G | GRCh38 |
| NC_000016.9:g.81412165C>G , CM000678.1:g.81412165C>G | GRCh37 |
| NC_000016.8:g.79969666C>G | NCBI36 |
| NG_009007.1:g.68595C>G , LRG_242:g.68595C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000648349.2:c.*2466C>G | ENSP00000498114.1:n.*2466C>G | |
| ENST00000648994.2:c.*964C>G MANE Select | ENSP00000497351.1:n.*964C>G | |
| ENST00000568107.2:c.*964C>G | ENSP00000476795.1:n.*964C>G | |
| NM_022041.3:c.*964C>G , LRG_242t1:c.*964C>G | NP_071324.1:n.*964C>G | |
| XM_017023734.1:c.*964C>G | XP_016879223.1:n.*964C>G | |
| NM_001377486.1:c.*964C>G | NP_001364415.1:n.*964C>G | |
| NM_022041.4:c.*964C>G MANE Select | NP_071324.1:n.*964C>G |