Linked Data
ClinVar Variation Id:
768742
ClinVar RCV Id:
RCV000947665
dbSNP Id:
rs11644978
gnomAD v2:
16-3142911-C-G
gnomAD v3:
16-3092910-C-G
gnomAD v4:
16-3092910-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3092910C>G , CM000678.2:g.3092910C>G | GRCh38 |
| NC_000016.9:g.3142911C>G , CM000678.1:g.3142911C>G | GRCh37 |
| NC_000016.8:g.3082912C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000576985.6:c.28G>C MANE Select | ENSP00000458879.2:p.Val10Leu | |
| ENST00000538082.5:c.-116G>C | ENSP00000440047.2:n.-116G>C | |
| ENST00000571903.5:n.327G>C | ||
| ENST00000572431.1:c.-518-1082G>C | ENSP00000460473.1:n.-518-1082G>C | |
| ENST00000572548.1:c.28G>C | ENSP00000461871.2:p.Val10Leu | |
| ENST00000575108.5:c.-786-594G>C | ENSP00000459520.1:n.-786-594G>C | |
| ENST00000576483.1:c.28G>C | ENSP00000458260.2:p.Val10Leu | |
| ENST00000576985.5:c.28G>C | ENSP00000458879.2:p.Val10Leu | |
| ENST00000577059.1:n.176G>C | ||
| NM_001282415.1:c.-786-594G>C | NP_001269344.1:n.-786-594G>C | |
| NM_001282416.1:c.-116G>C | NP_001269345.1:n.-116G>C | |
| NM_032805.2:c.28G>C | NP_116194.2:p.Val10Leu | |
| NM_001365272.1:c.-116G>C | NP_001352201.1:n.-116G>C | |
| NM_001365273.1:c.-518-1082G>C | NP_001352202.1:n.-518-1082G>C | |
| XM_017023791.1:c.28G>C | XP_016879280.1:p.Val10Leu | |
| XM_017023792.1:c.28G>C | XP_016879281.1:p.Val10Leu | |
| NM_032805.3:c.28G>C MANE Select | NP_116194.2:p.Val10Leu | |
| NM_001282415.2:c.-786-594G>C | NP_001269344.1:n.-786-594G>C | |
| NM_001282416.2:c.-116G>C | NP_001269345.1:n.-116G>C |