Linked Data
ClinVar Variation Id:
848489
dbSNP Id:
rs199474707
gnomAD v2:
3-46900980-C-G
gnomAD v4:
3-46859490-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.46859490C>G , CM000665.2:g.46859490C>G | GRCh38 |
| NC_000003.11:g.46900980C>G , CM000665.1:g.46900980C>G | GRCh37 |
| NC_000003.10:g.46875984C>G | NCBI36 |
| NG_007555.2:g.27680G>C , LRG_395:g.27680G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000431168.2:c.466G>C | ENSP00000393455.2:p.Val156Leu | |
| ENST00000292327.6:c.466G>C MANE Select | ENSP00000292327.4:p.Val156Leu | |
| ENST00000653454.1:c.466G>C | ENSP00000499624.1:p.Val156Leu | |
| ENST00000654597.1:c.466G>C | ENSP00000499406.1:p.Val156Leu | |
| ENST00000655244.1:n.688G>C | ||
| ENST00000662933.1:c.466G>C | ENSP00000499577.1:p.Val156Leu | |
| ENST00000664891.1:n.424G>C | ||
| ENST00000292327.4:c.466G>C | ENSP00000292327.4:p.Val156Leu | |
| ENST00000395869.5:c.466G>C | ENSP00000379210.1:p.Val156Leu | |
| NM_000258.2:c.466G>C , LRG_395t1:c.466G>C | NP_000249.1:p.Val156Leu | |
| NM_000258.3:c.466G>C MANE Select | NP_000249.1:p.Val156Leu |