Linked Data
ClinVar Variation Id:
21348
ClinVar RCV Id:
RCV000020515
dbSNP Id:
rs80356468
gnomAD v4:
2-166306571-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.166306571T>C , CM000664.2:g.166306571T>C | GRCh38 |
| NC_000002.11:g.167163081T>C , CM000664.1:g.167163081T>C | GRCh37 |
| NC_000002.10:g.166871327T>C | NCBI36 |
| NG_012798.1:g.74417A>G , LRG_369:g.74417A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000303354.11:c.406A>G | ENSP00000304748.7:p.Ile136Val | |
| ENST00000409435.6:c.406A>G | ENSP00000386330.2:p.Ile136Val | |
| ENST00000452182.2:c.406A>G | ENSP00000393141.2:p.Ile136Val | |
| ENST00000454569.6:c.406A>G | ENSP00000413212.2:p.Ile136Val | |
| ENST00000472119.2:n.761A>G | ||
| ENST00000642356.2:c.406A>G MANE Select | ENSP00000495601.1:p.Ile136Val | |
| ENST00000644316.1:c.406A>G | ENSP00000493939.1:p.Ile136Val | |
| ENST00000645907.1:c.406A>G | ENSP00000495983.1:p.Ile136Val | |
| ENST00000667991.1:c.*149A>G | ENSP00000499663.1:n.*149A>G | |
| ENST00000303354.10:c.406A>G | ENSP00000304748.7:p.Ile136Val | |
| ENST00000409435.5:c.406A>G | ENSP00000386330.1:p.Ile136Val | |
| ENST00000409672.5:c.406A>G | ENSP00000386306.1:p.Ile136Val | |
| ENST00000452182.1:c.1A>G | ENSP00000393141.1:p.Ile1Val | |
| ENST00000454569.5:c.1A>G | ENSP00000413212.1:p.Ile1Val | |
| NM_002977.3:c.406A>G , LRG_369t1:c.406A>G | NP_002968.1:p.Ile136Val | |
| XM_005246757.1:c.406A>G | XP_005246814.1:p.Ile136Val | |
| XM_011511616.1:c.406A>G | XP_011509918.1:p.Ile136Val | |
| XM_011511617.1:c.406A>G | XP_011509919.1:p.Ile136Val | |
| XM_011511618.1:c.406A>G | XP_011509920.1:p.Ile136Val | |
| XM_011511619.1:c.406A>G | XP_011509921.1:p.Ile136Val | |
| NM_001365536.1:c.406A>G MANE Select | NP_001352465.1:p.Ile136Val | |
| XM_011511616.3:c.406A>G | XP_011509918.1:p.Ile136Val | |
| XM_011511617.2:c.406A>G | XP_011509919.1:p.Ile136Val | |
| XM_011511618.2:c.406A>G | XP_011509920.1:p.Ile136Val | |
| XM_011511619.2:c.406A>G | XP_011509921.1:p.Ile136Val | |
| XM_017004668.1:c.19A>G | XP_016860157.1:p.Ile7Val | |
| XR_001738886.1:n.720A>G |