Linked Data
ClinVar Variation Id:
232225
dbSNP Id:
rs876659632
gnomAD v3:
16-23603603-A-C
gnomAD v4:
16-23603603-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23603603A>C , CM000678.2:g.23603603A>C | GRCh38 |
| NC_000016.9:g.23614924A>C , CM000678.1:g.23614924A>C | GRCh37 |
| NC_000016.8:g.23522425A>C | NCBI36 |
| NG_007406.1:g.42755T>G , LRG_308:g.42755T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561514.3:c.3423T>G | ENSP00000460666.3:p.Ile1141Met | |
| ENST00000565038.2:c.*902T>G | ENSP00000459882.2:n.*902T>G | |
| ENST00000566069.6:c.*52T>G | ENSP00000459237.2:n.*52T>G | |
| ENST00000697377.2:c.3261T>G | ENSP00000513286.2:p.Ile1087Met | |
| ENST00000697379.2:c.3423T>G | ENSP00000513287.2:p.Ile1141Met | |
| ENST00000561514.2:c.2532T>G | ENSP00000460666.2:p.Ile844Met | |
| ENST00000697374.1:c.2532T>G | ENSP00000513284.1:p.Ile844Met | |
| ENST00000697375.1:n.4764T>G | ||
| ENST00000697376.1:c.*52T>G | ENSP00000513285.1:n.*52T>G | |
| ENST00000697377.1:c.2370T>G | ENSP00000513286.1:p.Ile790Met | |
| ENST00000697378.1:n.3937T>G | ||
| ENST00000697379.1:c.2532T>G | ENSP00000513287.1:p.Ile844Met | |
| ENST00000697380.1:n.2621T>G | ||
| ENST00000697381.1:n.2112T>G | ||
| ENST00000697382.1:c.*194T>G | ENSP00000513288.1:n.*194T>G | |
| ENST00000697383.1:c.951T>G | ENSP00000513289.1:p.Ile317Met | |
| ENST00000261584.9:c.3417T>G MANE Select | ENSP00000261584.4:p.Ile1139Met | |
| ENST00000261584.8:c.3417T>G | ENSP00000261584.4:p.Ile1139Met | |
| ENST00000566069.5:c.183T>G | ||
| ENST00000568219.5:c.2532T>G | ENSP00000454703.2:p.Ile844Met | |
| NM_024675.3:c.3417T>G , LRG_308t1:c.3417T>G | NP_078951.2:p.Ile1139Met | |
| XM_011545946.1:c.3423T>G | XP_011544248.1:p.Ile1141Met | |
| XM_011545947.1:c.*52T>G | XP_011544249.1:n.*52T>G | |
| XM_011545948.1:c.2532T>G | XP_011544250.1:p.Ile844Met | |
| XR_950851.1:n.4125T>G | ||
| XM_011545946.2:c.3423T>G | XP_011544248.1:p.Ile1141Met | |
| XM_011545947.2:c.*52T>G | XP_011544249.1:n.*52T>G | |
| XM_011545948.2:c.2532T>G | XP_011544250.1:p.Ile844Met | |
| XM_017023671.1:c.3186T>G | XP_016879160.1:p.Ile1062Met | |
| XM_017023672.2:c.3180T>G | XP_016879161.1:p.Ile1060Met | |
| XM_017023673.2:c.*52T>G | XP_016879162.1:n.*52T>G | |
| NM_024675.4:c.3417T>G MANE Select | NP_078951.2:p.Ile1139Met |