Linked Data
ClinVar Variation Id:
30450
ClinVar RCV Id:
RCV000023403
dbSNP Id:
rs387906894
gnomAD v2:
4-47685820-T-C
gnomAD v4:
4-47683803-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.47683803T>C , CM000666.2:g.47683803T>C | GRCh38 |
| NC_000004.11:g.47685820T>C , CM000666.1:g.47685820T>C | GRCh37 |
| NC_000004.10:g.47380577T>C | NCBI36 |
| NG_032679.1:g.159240A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000273857.9:c.949A>G MANE Select | ENSP00000273857.4:p.Lys317Glu | |
| ENST00000273857.8:c.949A>G | ENSP00000273857.4:p.Lys317Glu | |
| ENST00000502252.5:c.748A>G | ENSP00000424212.1:p.Lys250Glu | |
| ENST00000502726.5:n.1106A>G | ||
| ENST00000503821.5:n.1067A>G | ||
| ENST00000504584.1:c.949A>G | ENSP00000423216.1:p.Lys317Glu | |
| ENST00000505909.5:c.949A>G | ENSP00000425401.1:p.Lys317Glu | |
| ENST00000508498.5:c.532A>G | ENSP00000425597.1:p.Lys178Glu | |
| ENST00000610355.4:c.748A>G | ENSP00000484087.1:p.Lys250Glu | |
| NM_001278585.1:c.748A>G | NP_001265514.1:p.Lys250Glu | |
| NM_001278586.1:c.949A>G | NP_001265515.1:p.Lys317Glu | |
| NM_006587.3:c.949A>G | NP_006578.2:p.Lys317Glu | |
| NM_006587.4:c.949A>G MANE Select | NP_006578.2:p.Lys317Glu | |
| NM_001278586.2:c.949A>G | NP_001265515.1:p.Lys317Glu | |
| NM_001278585.2:c.748A>G | NP_001265514.1:p.Lys250Glu |