Linked Data
ClinVar Variation Id:
1551
ClinVar RCV Id:
RCV000001616
dbSNP Id:
rs118204078
gnomAD v4:
8-19960935-C-G
PubMed:
PMID:8135797
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19960935C>G , CM000670.2:g.19960935C>G | GRCh38 |
| NC_000008.10:g.19818446C>G , CM000670.1:g.19818446C>G | GRCh37 |
| NC_000008.9:g.19862726C>G | NCBI36 |
| NG_008855.1:g.26865C>G | |
| NG_008855.2:g.64219C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650287.1:c.1174C>G MANE Select | ENSP00000497642.1:p.Leu392Val | |
| ENST00000650478.1:c.114C>G | ENSP00000497560.1:p.Ser38= | |
| ENST00000311322.8:c.1174C>G | ENSP00000309757.6:p.Leu392Val | |
| NM_000237.2:c.1174C>G | NP_000228.1:p.Leu392Val | |
| NM_000237.3:c.1174C>G MANE Select | NP_000228.1:p.Leu392Val |