Linked Data
ClinVar Variation Id:
1359118
ClinVar RCV Id:
RCV002548703
dbSNP Id:
rs774492523
gnomAD v2:
1-116310953-G-C
gnomAD v3:
1-115768332-G-C
gnomAD v4:
1-115768332-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115768332G>C , CM000663.2:g.115768332G>C | GRCh38 |
| NC_000001.10:g.116310953G>C , CM000663.1:g.116310953G>C | GRCh37 |
| NC_000001.9:g.116112476G>C | NCBI36 |
| NG_008802.1:g.5474C>G , LRG_404:g.5474C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000488931.2:c.-67C>G | ENSP00000518226.1:n.-67C>G | |
| ENST00000261448.6:c.210C>G MANE Select | ENSP00000261448.5:p.Phe70Leu | |
| ENST00000261448.5:c.210C>G | ENSP00000261448.5:p.Phe70Leu | |
| NM_001232.3:c.210C>G , LRG_404t1:c.210C>G | NP_001223.2:p.Phe70Leu | |
| NM_001232.4:c.210C>G MANE Select | NP_001223.2:p.Phe70Leu |