Linked Data
ClinVar Variation Id:
217854
ClinVar RCV Id:
RCV000201906
dbSNP Id:
rs863225282
COSMIC:
COSM98492
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29214009A>C , CM000664.2:g.29214009A>C | GRCh38 |
| NC_000002.11:g.29436875A>C , CM000664.1:g.29436875A>C | GRCh37 |
| NC_000002.10:g.29290379A>C | NCBI36 |
| NG_009445.1:g.712558T>G , LRG_488:g.712558T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.3718T>G MANE Select | ENSP00000373700.3:p.Leu1240Val | |
| ENST00000431873.6:c.945T>G | ||
| ENST00000638605.1:n.595T>G | ||
| ENST00000642122.1:c.514T>G | ENSP00000493203.1:p.Leu172Val | |
| ENST00000389048.7:c.3718T>G | ENSP00000373700.3:p.Leu1240Val | |
| ENST00000431873.5:c.598T>G | ENSP00000414027.2:p.Leu200Val | |
| ENST00000618119.4:c.2587T>G | ENSP00000482733.1:p.Leu863Val | |
| NM_004304.4:c.3718T>G | NP_004295.2:p.Leu1240Val | |
| NM_001353765.1:c.514T>G | NP_001340694.1:p.Leu172Val | |
| XM_024452778.1:c.871T>G | XP_024308546.1:p.Leu291Val | |
| XM_024452779.1:c.514T>G | XP_024308547.1:p.Leu172Val | |
| NM_004304.5:c.3718T>G MANE Select | NP_004295.2:p.Leu1240Val | |
| NM_001353765.2:c.514T>G | NP_001340694.1:p.Leu172Val |