Linked Data
ClinVar Variation Id:
18302
ClinVar RCV Id:
RCV000019964
dbSNP Id:
rs387906584
gnomAD v2:
16-88876107-C-G
gnomAD v3:
16-88809699-C-G
gnomAD v4:
16-88809699-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88809699C>G , CM000678.2:g.88809699C>G | GRCh38 |
| NC_000016.9:g.88876107C>G , CM000678.1:g.88876107C>G | GRCh37 |
| NC_000016.8:g.87403608C>G | NCBI36 |
| NG_008013.1:g.7236G>C | |
| NG_028266.1:g.10922C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378364.8:c.542G>C MANE Select | ENSP00000367615.3:p.Ter181Ser | |
| ENST00000378364.7:c.542G>C | ENSP00000367615.3:p.Ter181Ser | |
| ENST00000426324.6:c.*3G>C | ENSP00000397007.2:n.*3G>C | |
| ENST00000563655.5:c.461G>C | ENSP00000456012.1:p.Ter154Ser | |
| ENST00000567057.5:n.207G>C | ||
| ENST00000567391.5:c.*216G>C | ENSP00000457964.1:n.*216G>C | |
| ENST00000567713.5:c.322-164G>C | ENSP00000455749.1:n.322-164G>C | |
| ENST00000568319.5:c.*82G>C | ENSP00000456905.1:n.*82G>C | |
| ENST00000568575.1:n.471G>C | ||
| ENST00000569616.1:c.607G>C | ||
| NM_000485.2:c.542G>C | NP_000476.1:p.Ter181Ser | |
| NM_001030018.1:c.*3G>C | NP_001025189.1:n.*3G>C | |
| NM_000485.3:c.542G>C MANE Select | NP_000476.1:p.Ter181Ser | |
| NM_001030018.2:c.*3G>C | NP_001025189.1:n.*3G>C |