Linked Data
ClinVar Variation Id:
2295354
ClinVar RCV Id:
RCV002865250
dbSNP Id:
rs1680555904
gnomAD v4:
2-112756807-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.112756807C>G , CM000664.2:g.112756807C>G | GRCh38 |
| NC_000002.11:g.113514384C>G , CM000664.1:g.113514384C>G | GRCh37 |
| NC_000002.10:g.113230855C>G | NCBI36 |
| NG_041820.1:g.12871G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302450.11:c.564G>C MANE Select | ENSP00000305204.6:p.Leu188Phe | |
| ENST00000302450.10:c.564G>C | ENSP00000305204.6:p.Leu188Phe | |
| ENST00000435431.5:c.478+86G>C | ENSP00000414834.1:n.478+86G>C | |
| ENST00000481732.5:n.525G>C | ||
| NM_001304361.1:c.69G>C | NP_001291290.1:p.Leu23Phe | |
| NM_152515.4:c.564G>C | NP_689728.3:p.Leu188Phe | |
| NR_130712.1:n.557+86G>C | ||
| XM_011510666.1:c.69G>C | XP_011508968.1:p.Leu23Phe | |
| XM_011510666.2:c.69G>C | XP_011508968.1:p.Leu23Phe | |
| NM_152515.5:c.564G>C MANE Select | NP_689728.3:p.Leu188Phe | |
| NM_001304361.2:c.69G>C | NP_001291290.1:p.Leu23Phe | |
| NR_130712.2:n.489+86G>C |