Linked Data
ClinVar Variation Id:
1575917
ClinVar RCV Id:
RCV002075456
dbSNP Id:
rs766129455
ExAC:
16:81399027 C / G
gnomAD v2:
16-81399027-C-G
gnomAD v3:
16-81365422-C-G
gnomAD v4:
16-81365422-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.81365422C>G , CM000678.2:g.81365422C>G | GRCh38 |
| NC_000016.9:g.81399027C>G , CM000678.1:g.81399027C>G | GRCh37 |
| NC_000016.8:g.79956528C>G | NCBI36 |
| NG_009007.1:g.55457C>G , LRG_242:g.55457C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648349.2:c.*1154C>G | ENSP00000498114.1:n.*1154C>G | |
| ENST00000648994.2:c.1446C>G MANE Select | ENSP00000497351.1:p.Ala482= | |
| ENST00000650388.1:c.980C>G | ENSP00000498081.1:n.980C>G | |
| ENST00000567335.1:n.4C>G | ||
| ENST00000568107.2:c.1446C>G | ENSP00000476795.1:p.Ala482= | |
| NM_022041.3:c.1446C>G , LRG_242t1:c.1446C>G | NP_071324.1:p.Ala482= | |
| XM_017023734.1:c.807C>G | XP_016879223.1:p.Ala269= | |
| NM_001377486.1:c.807C>G | NP_001364415.1:p.Ala269= | |
| NM_022041.4:c.1446C>G MANE Select | NP_071324.1:p.Ala482= |