Linked Data
ClinVar Variation Id:
461718
ClinVar RCV Id:
RCV001448307
dbSNP Id:
rs200738706
ExAC:
11:4104553 C / T
gnomAD v2:
11-4104553-C-T
gnomAD v3:
11-4083323-C-T
gnomAD v4:
11-4083323-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.4083323C>T , CM000673.2:g.4083323C>T | GRCh38 |
| NC_000011.9:g.4104553C>T , CM000673.1:g.4104553C>T | GRCh37 |
| NC_000011.8:g.4061129C>T | NCBI36 |
| NG_016277.1:g.232621C>T , LRG_164:g.232621C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525403.6:c.1077C>T | ENSP00000432210.2:p.Ile359= | |
| ENST00000533343.2:n.1898C>T | ||
| ENST00000698909.1:n.2156C>T | ||
| ENST00000698910.1:c.810C>T | ENSP00000514024.1:p.Ile270= | |
| ENST00000698911.1:c.1077C>T | ENSP00000514025.1:p.Ile359= | |
| ENST00000698912.1:c.1077C>T | ENSP00000514026.1:p.Ile359= | |
| ENST00000698913.1:c.1077C>T | ENSP00000514027.1:p.Ile359= | |
| ENST00000698915.1:c.1299C>T | ENSP00000514029.1:p.Ile433= | |
| ENST00000698916.1:c.1320C>T | ENSP00000514030.1:p.Ile440= | |
| ENST00000698918.1:c.*1000C>T | ENSP00000514031.1:n.*1000C>T | |
| ENST00000698919.1:c.*232C>T | ENSP00000514032.1:n.*232C>T | |
| ENST00000698920.1:n.599C>T | ||
| ENST00000526596.2:c.1299C>T MANE Select | ENSP00000433266.2:p.Ile433= | |
| ENST00000300737.8:c.1299C>T | ENSP00000300737.4:p.Ile433= | |
| ENST00000526596.1:c.491C>T | ||
| ENST00000527651.5:c.1299C>T | ENSP00000436208.1:p.Ile433= | |
| ENST00000531332.1:n.167C>T | ||
| ENST00000533343.1:n.309C>T | ||
| ENST00000533977.5:c.780C>T | ENSP00000434767.1:p.Ile260= | |
| ENST00000616714.4:c.1299C>T | ENSP00000478059.1:p.Ile433= | |
| NM_001277961.1:c.1299C>T | NP_001264890.1:p.Ile433= | |
| NM_001277962.1:c.1299C>T | NP_001264891.1:p.Ile433= | |
| NM_003156.3:c.1299C>T , LRG_164t1:c.1299C>T | NP_003147.2:p.Ile433= | |
| NM_001277962.2:c.1299C>T | NP_001264891.1:p.Ile433= | |
| NM_001277961.3:c.1299C>T | NP_001264890.1:p.Ile433= | |
| NM_001382566.1:c.1077C>T | NP_001369495.1:p.Ile359= | |
| NM_001382567.1:c.1299C>T MANE Select | NP_001369496.1:p.Ile433= | |
| NM_001382568.1:c.1320C>T | NP_001369497.1:p.Ile440= | |
| NM_001382569.1:c.1164C>T | NP_001369498.1:p.Ile388= | |
| NM_001382570.1:c.1071C>T | NP_001369499.1:p.Ile357= | |
| NM_001382571.1:c.819C>T | NP_001369500.1:p.Ile273= | |
| NM_001382573.1:c.1077C>T | NP_001369502.1:p.Ile359= | |
| NM_001382575.1:c.1077C>T | NP_001369504.1:p.Ile359= | |
| NM_001382576.1:c.1077C>T | NP_001369505.1:p.Ile359= | |
| NM_001382577.1:c.1077C>T | NP_001369506.1:p.Ile359= | |
| NM_001382578.1:c.1077C>T | NP_001369507.1:p.Ile359= | |
| NM_001382579.1:c.1077C>T | NP_001369508.1:p.Ile359= | |
| NM_001382580.1:c.810C>T | NP_001369509.1:p.Ile270= | |
| NM_001382581.1:c.810C>T | NP_001369510.1:p.Ile270= | |
| NM_003156.4:c.1299C>T | NP_003147.2:p.Ile433= | |
| NR_168436.1:n.1399-3154C>T | ||
| NR_168437.1:n.1728C>T | ||
| NR_168438.1:n.1550C>T |