Linked Data
ClinVar Variation Id:
2259496
ClinVar RCV Id:
RCV004121456
dbSNP Id:
rs771893805
ExAC:
3:44952864 C / G
gnomAD v2:
3-44952864-C-G
gnomAD v3:
3-44911372-C-G
gnomAD v4:
3-44911372-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.44911372C>G , CM000665.2:g.44911372C>G | GRCh38 |
| NC_000003.11:g.44952864C>G , CM000665.1:g.44952864C>G | GRCh37 |
| NC_000003.10:g.44927868C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000705784.1:c.2014C>G | ENSP00000516167.1:p.Leu672Val | |
| ENST00000296125.9:c.1879C>G MANE Select | ENSP00000296125.4:p.Leu627Val | |
| ENST00000296125.8:c.1879C>G | ENSP00000296125.4:p.Leu627Val | |
| NM_003241.3:c.1879C>G | NP_003232.2:p.Leu627Val | |
| XM_011534042.1:c.2014C>G | XP_011532344.1:p.Leu672Val | |
| XM_011534042.2:c.2014C>G | XP_011532344.1:p.Leu672Val | |
| NM_003241.4:c.1879C>G MANE Select | NP_003232.2:p.Leu627Val |