Linked Data
ClinVar Variation Id:
1017210
dbSNP Id:
rs141122478
gnomAD v2:
3-93593139-T-C
gnomAD v3:
3-93874295-T-C
gnomAD v4:
3-93874295-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.93874295T>C , CM000665.2:g.93874295T>C | GRCh38 |
| NC_000003.11:g.93593139T>C , CM000665.1:g.93593139T>C | GRCh37 |
| NC_000003.10:g.95075829T>C | NCBI36 |
| NG_009813.1:g.104796A>G , LRG_572:g.104796A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348974.5:c.1981A>G | ENSP00000330021.7:p.Ile661Val | |
| ENST00000394236.9:c.1981A>G MANE Select | ENSP00000377783.3:p.Ile661Val | |
| ENST00000407433.6:c.1936A>G | ENSP00000385794.2:p.Ile646Val | |
| ENST00000647936.1:c.*84A>G | ENSP00000496822.1:n.*84A>G | |
| ENST00000648381.1:n.2149A>G | ||
| ENST00000648853.1:c.1939A>G | ENSP00000497262.1:p.Ile647Val | |
| ENST00000650591.1:c.2077A>G | ENSP00000497376.1:p.Ile693Val | |
| ENST00000394236.7:c.1981A>G | ENSP00000377783.3:p.Ile661Val | |
| ENST00000407433.5:c.1588A>G | ENSP00000385794.1:p.Ile530Val | |
| NM_000313.3:c.1981A>G , LRG_572t1:c.1981A>G | NP_000304.2:p.Ile661Val | |
| NM_001314077.1:c.2077A>G , LRG_572t2:c.2077A>G | NP_001301006.1:p.Ile693Val | |
| NM_000313.4:c.1981A>G MANE Select | NP_000304.2:p.Ile661Val | |
| NM_001314077.2:c.2077A>G | NP_001301006.1:p.Ile693Val |