Linked Data
ClinVar Variation Id:
6780
dbSNP Id:
rs28938174
gnomAD v2:
11-71153365-T-A
gnomAD v3:
11-71442319-T-A
gnomAD v4:
11-71442319-T-A
MyVariant Identifiers:
chr11:g.71153365T>A (hg19)
chr11:g.71153365_71153366delinsAG (hg19)
chr11:g.71442319T>A (hg38)
PubMed:
PMID:9683613
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.71442319T>A , CM000673.2:g.71442319T>A | GRCh38 |
| NC_000011.9:g.71153365T>A , CM000673.1:g.71153365T>A | GRCh37 |
| NC_000011.8:g.70831013T>A | NCBI36 |
| NG_012655.2:g.11113A>T , LRG_340:g.11113A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525346.6:c.356A>T | ENSP00000435707.3:p.His119Leu | |
| ENST00000526780.6:c.356A>T | ENSP00000435668.2:p.His119Leu | |
| ENST00000527316.6:c.182A>T | ENSP00000435047.2:p.His61Leu | |
| ENST00000682708.1:c.356A>T | ENSP00000506866.1:p.His119Leu | |
| ENST00000682880.1:c.356A>T | ENSP00000507520.1:p.His119Leu | |
| ENST00000683287.1:c.392A>T | ENSP00000507607.1:p.His131Leu | |
| ENST00000683714.1:c.356A>T | ENSP00000508207.1:p.His119Leu | |
| ENST00000683874.1:n.633A>T | ||
| ENST00000685320.1:c.-230A>T | ENSP00000509319.1:n.-230A>T | |
| ENST00000690257.1:c.260A>T | ENSP00000510750.1:p.His87Leu | |
| ENST00000355527.8:c.356A>T MANE Select | ENSP00000347717.4:p.His119Leu | |
| ENST00000355527.7:c.356A>T | ENSP00000347717.3:p.His119Leu | |
| ENST00000407721.6:c.356A>T | ENSP00000384739.2:p.His119Leu | |
| ENST00000526780.5:c.356A>T | ENSP00000435668.1:p.His119Leu | |
| ENST00000527316.5:c.260A>T | ENSP00000435047.1:p.His87Leu | |
| NM_001163817.1:c.356A>T | NP_001157289.1:p.His119Leu | |
| NM_001360.2:c.356A>T , LRG_340t1:c.356A>T | NP_001351.2:p.His119Leu | |
| XM_011544777.1:c.356A>T | XP_011543079.1:p.His119Leu | |
| XM_011544777.2:c.356A>T | XP_011543079.1:p.His119Leu | |
| NM_001163817.2:c.356A>T | NP_001157289.1:p.His119Leu | |
| NM_001360.3:c.356A>T MANE Select | NP_001351.2:p.His119Leu |