Linked Data
ClinVar Variation Id:
731162
ClinVar RCV Id:
RCV003502566
dbSNP Id:
rs774474579
ExAC:
1:24124667 C / T
gnomAD v2:
1-24124667-C-T
gnomAD v3:
1-23798177-C-T
gnomAD v4:
1-23798177-C-T
COSMIC:
COSM3789717
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23798177C>T , CM000663.2:g.23798177C>T | GRCh38 |
| NC_000001.10:g.24124667C>T , CM000663.1:g.24124667C>T | GRCh37 |
| NC_000001.9:g.23997254C>T | NCBI36 |
| NG_007068.1:g.7628G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617979.5:c.291G>A MANE Select | ENSP00000483375.1:p.Ser97= | |
| ENST00000374497.7:c.291G>A | ENSP00000363621.3:p.Ser97= | |
| ENST00000418277.5:c.99G>A | ENSP00000414719.1:p.Ser33= | |
| ENST00000425913.5:c.291G>A | ENSP00000393359.1:p.Ser97= | |
| ENST00000429356.5:c.99G>A | ENSP00000398585.1:p.Ser33= | |
| ENST00000445705.1:c.291G>A | ENSP00000398257.1:p.Ser97= | |
| ENST00000459934.5:n.409G>A | ||
| ENST00000467493.5:n.751G>A | ||
| ENST00000470949.5:n.236G>A | ||
| ENST00000481736.5:n.695G>A | ||
| ENST00000486382.1:n.392G>A | ||
| ENST00000617979.4:c.291G>A | ENSP00000483375.1:p.Ser97= | |
| NM_000403.3:c.291G>A | NP_000394.2:p.Ser97= | |
| NM_001008216.1:c.291G>A | NP_001008217.1:p.Ser97= | |
| NM_001127621.1:c.291G>A | NP_001121093.1:p.Ser97= | |
| NM_001008216.2:c.291G>A MANE Select | NP_001008217.1:p.Ser97= | |
| NM_000403.4:c.291G>A | NP_000394.2:p.Ser97= | |
| NM_001127621.2:c.291G>A | NP_001121093.1:p.Ser97= |