Linked Data
ClinVar Variation Id:
66326
ClinVar RCV Id:
RCV000056690
dbSNP Id:
rs59440884
gnomAD v4:
17-41583257-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41583257G>C , CM000679.2:g.41583257G>C | GRCh38 |
| NC_000017.10:g.39739509G>C , CM000679.1:g.39739509G>C | GRCh37 |
| NC_000017.9:g.36993035G>C | NCBI36 |
| NG_008624.1:g.8639C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000167586.7:c.1252C>G MANE Select | ENSP00000167586.6:p.Leu418Val | |
| ENST00000167586.6:c.1252C>G | ENSP00000167586.6:p.Leu418Val | |
| ENST00000441550.2:n.199C>G | ||
| ENST00000476662.1:n.702C>G | ||
| NM_000526.4:c.1252C>G | NP_000517.2:p.Leu418Val | |
| NM_000526.5:c.1252C>G MANE Select | NP_000517.3:p.Leu418Val |