Linked Data
ClinVar Variation Id:
1705031
ClinVar RCV Id:
RCV002283356
dbSNP Id:
rs2148166660
gnomAD v4:
2-29220813-C-G
COSMIC:
COSM4381101
CIViC:
CA346473150
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29220813C>G , CM000664.2:g.29220813C>G | GRCh38 |
| NC_000002.11:g.29443679C>G , CM000664.1:g.29443679C>G | GRCh37 |
| NC_000002.10:g.29297183C>G | NCBI36 |
| NG_009445.1:g.705754G>C , LRG_488:g.705754G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.3538G>C MANE Select | ENSP00000373700.3:p.Val1180Leu | |
| ENST00000431873.6:c.765G>C | ||
| ENST00000638605.1:n.415G>C | ||
| ENST00000642122.1:c.334G>C | ENSP00000493203.1:p.Val112Leu | |
| ENST00000389048.7:c.3538G>C | ENSP00000373700.3:p.Val1180Leu | |
| ENST00000431873.5:c.418G>C | ENSP00000414027.2:p.Val140Leu | |
| ENST00000618119.4:c.2407G>C | ENSP00000482733.1:p.Val803Leu | |
| NM_004304.4:c.3538G>C | NP_004295.2:p.Val1180Leu | |
| NM_001353765.1:c.334G>C | NP_001340694.1:p.Val112Leu | |
| XM_024452778.1:c.691G>C | XP_024308546.1:p.Val231Leu | |
| XM_024452779.1:c.334G>C | XP_024308547.1:p.Val112Leu | |
| NM_004304.5:c.3538G>C MANE Select | NP_004295.2:p.Val1180Leu | |
| NM_001353765.2:c.334G>C | NP_001340694.1:p.Val112Leu |