Linked Data
ClinVar Variation Id:
1479365
ClinVar RCV Id:
RCV001990932
dbSNP Id:
rs1789804697
gnomAD v4:
7-21816614-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21816614C>G , CM000669.2:g.21816614C>G | GRCh38 |
| NC_000007.13:g.21856232C>G , CM000669.1:g.21856232C>G | GRCh37 |
| NC_000007.12:g.21822757C>G | NCBI36 |
| NG_012886.2:g.278400C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409508.8:c.10480C>G MANE Select | ENSP00000475939.1:p.Leu3494Val | |
| ENST00000328843.10:c.10501C>G | ENSP00000330671.7:p.Leu3501Val | |
| ENST00000409508.7:c.10480C>G | ENSP00000475939.1:p.Leu3494Val | |
| ENST00000620169.4:c.10501C>G | ENSP00000481693.1:p.Leu3501Val | |
| NM_001277115.1:c.10480C>G | NP_001264044.1:p.Leu3494Val | |
| NM_001277115.2:c.10480C>G MANE Select | NP_001264044.1:p.Leu3494Val |