Linked Data
ClinVar Variation Id:
36461
dbSNP Id:
rs45508991
ExAC:
19:11233886 C / T
gnomAD v2:
19-11233886-C-T
gnomAD v3:
19-11123210-C-T
gnomAD v4:
19-11123210-C-T
PubMed:
PMID:1301940
PMID:1301956
PMID:7616128
PMID:9003505
PMID:9259195
PMID:9544746
PMID:10090484
PMID:15035285
PMID:15199436
PMID:15241806
PMID:15633194
PMID:19007590
PMID:21145767
PMID:21722902
PMID:23375686
PMID:25647241
PMID:26036859
PMID:26892515
PMID:28145427
ERepo:
CA023649/MONDO:0007750/013
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11123210C>T , CM000681.2:g.11123210C>T | GRCh38 |
| NC_000019.9:g.11233886C>T , CM000681.1:g.11233886C>T | GRCh37 |
| NC_000019.8:g.11094886C>T | NCBI36 |
| NG_009060.1:g.38830C>T , LRG_274:g.38830C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2435C>T | ENSP00000252444.6:p.Thr812Ile | |
| ENST00000559340.2:c.*246C>T | ENSP00000453696.2:n.*246C>T | |
| ENST00000560467.2:c.2057C>T | ENSP00000453513.2:p.Thr686Ile | |
| ENST00000558518.6:c.2177C>T MANE Select | ENSP00000454071.1:p.Thr726Ile | |
| ENST00000252444.9:c.2431C>T | ||
| ENST00000455727.6:c.1673C>T | ENSP00000397829.2:p.Thr558Ile | |
| ENST00000535915.5:c.2054C>T | ENSP00000440520.1:p.Thr685Ile | |
| ENST00000545707.5:c.1643C>T | ENSP00000437639.1:p.Thr548Ile | |
| ENST00000557933.5:c.2177C>T | ENSP00000453557.1:p.Thr726Ile | |
| ENST00000558013.5:c.2177C>T | ENSP00000453346.1:p.Thr726Ile | |
| ENST00000558518.5:c.2177C>T | ENSP00000454071.1:p.Thr726Ile | |
| NM_000527.4:c.2177C>T , LRG_274t1:c.2177C>T | NP_000518.1:p.Thr726Ile | |
| NM_001195798.1:c.2177C>T | NP_001182727.1:p.Thr726Ile | |
| NM_001195799.1:c.2054C>T | NP_001182728.1:p.Thr685Ile | |
| NM_001195800.1:c.1673C>T | NP_001182729.1:p.Thr558Ile | |
| NM_001195803.1:c.1643C>T | NP_001182732.1:p.Thr548Ile | |
| XM_011528010.1:c.2177C>T | XP_011526312.1:p.Thr726Ile | |
| XM_011528011.1:c.1796C>T | XP_011526313.1:p.Thr599Ile | |
| XR_244074.2:n.2187C>T | ||
| XM_011528010.2:c.2177C>T | XP_011526312.1:p.Thr726Ile | |
| XR_001753685.2:n.2511C>T | ||
| XR_001753686.2:n.2154C>T | ||
| NM_000527.5:c.2177C>T MANE Select | NP_000518.1:p.Thr726Ile | |
| NM_001195798.2:c.2177C>T | NP_001182727.1:p.Thr726Ile | |
| NM_001195799.2:c.2054C>T | NP_001182728.1:p.Thr685Ile | |
| NM_001195800.2:c.1673C>T | NP_001182729.1:p.Thr558Ile | |
| NM_001195803.2:c.1643C>T | NP_001182732.1:p.Thr548Ile |