Linked Data
ClinVar Variation Id:
942254
ClinVar RCV Id:
RCV001212204
dbSNP Id:
rs371655991
gnomAD v4:
11-4083391-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.4083391T>C , CM000673.2:g.4083391T>C | GRCh38 |
| NC_000011.9:g.4104621T>C , CM000673.1:g.4104621T>C | GRCh37 |
| NC_000011.8:g.4061197T>C | NCBI36 |
| NG_016277.1:g.232689T>C , LRG_164:g.232689T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525403.6:c.1145T>C | ENSP00000432210.2:p.Ile382Thr | |
| ENST00000533343.2:n.1966T>C | ||
| ENST00000698909.1:n.2224T>C | ||
| ENST00000698910.1:c.878T>C | ENSP00000514024.1:p.Ile293Thr | |
| ENST00000698911.1:c.1145T>C | ENSP00000514025.1:p.Ile382Thr | |
| ENST00000698912.1:c.1145T>C | ENSP00000514026.1:p.Ile382Thr | |
| ENST00000698913.1:c.1145T>C | ENSP00000514027.1:p.Ile382Thr | |
| ENST00000698915.1:c.1367T>C | ENSP00000514029.1:p.Ile456Thr | |
| ENST00000698916.1:c.1388T>C | ENSP00000514030.1:p.Ile463Thr | |
| ENST00000698918.1:c.*1068T>C | ENSP00000514031.1:n.*1068T>C | |
| ENST00000698919.1:c.*300T>C | ENSP00000514032.1:n.*300T>C | |
| ENST00000698920.1:n.667T>C | ||
| ENST00000526596.2:c.1367T>C MANE Select | ENSP00000433266.2:p.Ile456Thr | |
| ENST00000300737.8:c.1367T>C | ENSP00000300737.4:p.Ile456Thr | |
| ENST00000526596.1:c.559T>C | ||
| ENST00000527651.5:c.1367T>C | ENSP00000436208.1:p.Ile456Thr | |
| ENST00000531332.1:n.235T>C | ||
| ENST00000533343.1:n.377T>C | ||
| ENST00000533977.5:c.848T>C | ENSP00000434767.1:p.Ile283Thr | |
| ENST00000616714.4:c.1367T>C | ENSP00000478059.1:p.Ile456Thr | |
| NM_001277961.1:c.1367T>C | NP_001264890.1:p.Ile456Thr | |
| NM_001277962.1:c.1367T>C | NP_001264891.1:p.Ile456Thr | |
| NM_003156.3:c.1367T>C , LRG_164t1:c.1367T>C | NP_003147.2:p.Ile456Thr | |
| NM_001277962.2:c.1367T>C | NP_001264891.1:p.Ile456Thr | |
| NM_001277961.3:c.1367T>C | NP_001264890.1:p.Ile456Thr | |
| NM_001382566.1:c.1145T>C | NP_001369495.1:p.Ile382Thr | |
| NM_001382567.1:c.1367T>C MANE Select | NP_001369496.1:p.Ile456Thr | |
| NM_001382568.1:c.1388T>C | NP_001369497.1:p.Ile463Thr | |
| NM_001382569.1:c.1232T>C | NP_001369498.1:p.Ile411Thr | |
| NM_001382570.1:c.1139T>C | NP_001369499.1:p.Ile380Thr | |
| NM_001382571.1:c.887T>C | NP_001369500.1:p.Ile296Thr | |
| NM_001382573.1:c.1145T>C | NP_001369502.1:p.Ile382Thr | |
| NM_001382575.1:c.1145T>C | NP_001369504.1:p.Ile382Thr | |
| NM_001382576.1:c.1145T>C | NP_001369505.1:p.Ile382Thr | |
| NM_001382577.1:c.1145T>C | NP_001369506.1:p.Ile382Thr | |
| NM_001382578.1:c.1145T>C | NP_001369507.1:p.Ile382Thr | |
| NM_001382579.1:c.1145T>C | NP_001369508.1:p.Ile382Thr | |
| NM_001382580.1:c.878T>C | NP_001369509.1:p.Ile293Thr | |
| NM_001382581.1:c.878T>C | NP_001369510.1:p.Ile293Thr | |
| NM_003156.4:c.1367T>C | NP_003147.2:p.Ile456Thr | |
| NR_168436.1:n.1399-3086T>C | ||
| NR_168437.1:n.1796T>C | ||
| NR_168438.1:n.1618T>C |