Linked Data
ClinVar Variation Id:
1623004
ClinVar RCV Id:
RCV002108695
dbSNP Id:
rs200152652
gnomAD v4:
3-39394486-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.39394486A>G , CM000665.2:g.39394486A>G | GRCh38 |
| NC_000003.11:g.39435977A>G , CM000665.1:g.39435977A>G | GRCh37 |
| NC_000003.10:g.39410981A>G | NCBI36 |
| NG_016931.1:g.16163A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000642683.1:c.654A>G | ENSP00000495376.1:p.Val218= | |
| ENST00000643672.1:c.651A>G | ENSP00000494532.1:p.Val217= | |
| ENST00000645280.1:c.648A>G | ENSP00000496690.1:p.Val216= | |
| ENST00000648579.1:c.758A>G | ENSP00000497638.1:p.Ter253= | |
| ENST00000650617.1:c.702A>G MANE Select | ENSP00000497532.1:p.Val234= | |
| ENST00000273158.8:c.702A>G | ENSP00000273158.3:p.Val234= | |
| NM_017875.2:c.702A>G | NP_060345.2:p.Val234= | |
| XM_006713214.1:c.690A>G | XP_006713277.1:p.Val230= | |
| XM_011533869.1:c.684A>G | XP_011532171.1:p.Val228= | |
| XM_011533870.1:c.651A>G | XP_011532172.1:p.Val217= | |
| XM_011533871.1:c.522A>G | XP_011532173.1:p.Val174= | |
| NM_001354798.1:c.626-1912A>G | NP_001341727.1:n.626-1912A>G | |
| NM_017875.4:c.702A>G MANE Select | NP_060345.2:p.Val234= | |
| XM_006713214.2:c.690A>G | XP_006713277.1:p.Val230= | |
| XM_011533869.2:c.684A>G | XP_011532171.1:p.Val228= | |
| XM_024453611.1:c.648A>G | XP_024309379.1:p.Val216= | |
| NM_001354798.2:c.626-1912A>G | NP_001341727.1:n.626-1912A>G |