Linked Data
ClinVar Variation Id:
1483561
ClinVar RCV Id:
RCV002003198
dbSNP Id:
rs2108146685
gnomAD v4:
3-136261994-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.136261994C>G , CM000665.2:g.136261994C>G | GRCh38 |
| NC_000003.11:g.135980836C>G , CM000665.1:g.135980836C>G | GRCh37 |
| NC_000003.10:g.137463526C>G | NCBI36 |
| NG_008939.1:g.16670C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251654.9:c.472C>G MANE Select | ENSP00000251654.4:p.Leu158Val | |
| ENST00000251654.8:c.472C>G | ENSP00000251654.4:p.Leu158Val | |
| ENST00000459873.1:c.223C>G | ENSP00000419293.1:p.Leu75Val | |
| ENST00000462542.5:c.339C>G | ||
| ENST00000462637.5:c.403C>G | ENSP00000420391.1:p.Leu135Val | |
| ENST00000465176.5:n.434C>G | ||
| ENST00000465423.5:c.559C>G | ENSP00000419263.1:p.Leu187Val | |
| ENST00000466072.5:c.472C>G | ENSP00000420158.1:p.Leu158Val | |
| ENST00000468777.5:c.565C>G | ENSP00000419129.1:p.Leu189Val | |
| ENST00000469217.5:c.532C>G | ENSP00000419027.1:p.Leu178Val | |
| ENST00000471595.5:c.472C>G | ENSP00000417549.1:p.Leu158Val | |
| ENST00000473073.1:n.429C>G | ||
| ENST00000474833.5:n.168+11436C>G | ||
| ENST00000475214.5:n.386C>G | ||
| ENST00000478469.5:c.472C>G | ENSP00000420759.1:p.Leu158Val | |
| ENST00000482086.5:c.124C>G | ENSP00000417253.1:p.Leu42Val | |
| ENST00000483687.5:c.415C>G | ENSP00000420639.1:p.Leu139Val | |
| ENST00000484181.5:c.472C>G | ENSP00000417937.1:p.Leu158Val | |
| ENST00000490504.5:c.372+5371C>G | ENSP00000418307.1:n.372+5371C>G | |
| ENST00000494742.5:c.223C>G | ENSP00000418020.1:p.Leu75Val | |
| NM_000532.4:c.472C>G | NP_000523.2:p.Leu158Val | |
| NM_001178014.1:c.532C>G | NP_001171485.1:p.Leu178Val | |
| XM_011512873.1:c.472C>G | XP_011511175.1:p.Leu158Val | |
| XM_011512873.2:c.472C>G | XP_011511175.1:p.Leu158Val | |
| NM_000532.5:c.472C>G MANE Select | NP_000523.2:p.Leu158Val | |
| NM_001178014.2:c.532C>G | NP_001171485.1:p.Leu178Val |