Linked Data
ClinVar Variation Id:
1442462
ClinVar RCV Id:
RCV001969853
dbSNP Id:
rs121909238
gnomAD v4:
10-87933037-A-T
COSMIC:
COSM428085
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87933037A>T , CM000672.2:g.87933037A>T | GRCh38 |
| NC_000010.10:g.89692794A>T , CM000672.1:g.89692794A>T | GRCh37 |
| NC_000010.9:g.89682774A>T | NCBI36 |
| NG_007466.2:g.74599A>T , LRG_311:g.74599A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000700029.2:c.278A>T | ENSP00000514759.2:p.His93Leu | |
| ENST00000710265.1:c.278A>T | ENSP00000518161.1:p.His93Leu | |
| ENST00000472832.3:c.278A>T | ENSP00000483066.2:p.His93Leu | |
| ENST00000688158.2:n.1013A>T | ||
| ENST00000688922.2:c.*108A>T | ENSP00000508742.2:n.*108A>T | |
| ENST00000700021.1:c.233A>T | ENSP00000514757.1:p.His78Leu | |
| ENST00000700022.1:c.278A>T | ENSP00000514758.1:p.His93Leu | |
| ENST00000700029.1:c.112A>T | ||
| ENST00000706954.1:c.278A>T | ENSP00000516674.1:p.His93Leu | |
| ENST00000706955.1:c.*313A>T | ENSP00000516675.1:n.*313A>T | |
| ENST00000686459.1:c.278A>T | ENSP00000508909.1:p.His93Leu | |
| ENST00000688158.1:c.*389A>T | ENSP00000509254.1:n.*389A>T | |
| ENST00000688308.1:c.278A>T | ENSP00000508752.1:p.His93Leu | |
| ENST00000688922.1:c.199A>T | ||
| ENST00000693560.1:c.797A>T | ENSP00000509861.1:p.His266Leu | |
| ENST00000371953.8:c.278A>T MANE Select | ENSP00000361021.3:p.His93Leu | |
| ENST00000371953.7:c.278A>T | ENSP00000361021.3:p.His93Leu | |
| ENST00000498703.1:n.104A>T | ||
| ENST00000610634.1:c.176A>T | ENSP00000477517.1:p.His59Leu | |
| NM_000314.5:c.278A>T | NP_000305.3:p.His93Leu | |
| NM_000314.6:c.278A>T | NP_000305.3:p.His93Leu | |
| NM_001304717.2:c.797A>T | NP_001291646.2:p.His266Leu | |
| NM_001304718.1:c.-473A>T | NP_001291647.1:n.-473A>T | |
| XM_006717926.2:c.233A>T | XP_006717989.1:p.His78Leu | |
| XM_011539981.1:c.278A>T | XP_011538283.1:p.His93Leu | |
| XM_011539982.1:c.182A>T | XP_011538284.1:p.His61Leu | |
| XR_945789.1:n.990A>T | ||
| XR_945790.1:n.990A>T | ||
| XR_945791.1:n.990A>T | ||
| NM_000314.7:c.278A>T | NP_000305.3:p.His93Leu | |
| NM_001304717.5:c.797A>T | NP_001291646.4:p.His266Leu | |
| NM_001304718.2:c.-473A>T | NP_001291647.1:n.-473A>T | |
| NM_000314.8:c.278A>T MANE Select | NP_000305.3:p.His93Leu |