Linked Data
ClinVar Variation Id:
1896491
ClinVar RCV Id:
RCV002575773
dbSNP Id:
rs763991694
ExAC:
16:88876503 G / A
gnomAD v2:
16-88876503-G-A
gnomAD v3:
16-88810095-G-A
gnomAD v4:
16-88810095-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88810095G>A , CM000678.2:g.88810095G>A | GRCh38 |
| NC_000016.9:g.88876503G>A , CM000678.1:g.88876503G>A | GRCh37 |
| NC_000016.8:g.87404004G>A | NCBI36 |
| NG_008013.1:g.6840C>T | |
| NG_028266.1:g.11318G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378364.8:c.375C>T MANE Select | ENSP00000367615.3:p.Val125= | |
| ENST00000378364.7:c.375C>T | ENSP00000367615.3:p.Val125= | |
| ENST00000426324.6:c.375C>T | ENSP00000397007.2:p.Val125= | |
| ENST00000562464.1:n.385C>T | ||
| ENST00000563655.5:c.294C>T | ENSP00000456012.1:p.Val98= | |
| ENST00000567057.5:n.174C>T | ||
| ENST00000567391.5:c.*49C>T | ENSP00000457964.1:n.*49C>T | |
| ENST00000567713.5:c.321+328C>T | ENSP00000455749.1:n.321+328C>T | |
| ENST00000568319.5:c.*49C>T | ENSP00000456905.1:n.*49C>T | |
| ENST00000568575.1:n.304C>T | ||
| ENST00000569616.1:c.373C>T | ||
| NM_000485.2:c.375C>T | NP_000476.1:p.Val125= | |
| NM_001030018.1:c.375C>T | NP_001025189.1:p.Val125= | |
| NM_000485.3:c.375C>T MANE Select | NP_000476.1:p.Val125= | |
| NM_001030018.2:c.375C>T | NP_001025189.1:p.Val125= |