Linked Data
ClinVar Variation Id:
190891
dbSNP Id:
rs112363898
ExAC:
11:118015812 T / A
gnomAD v2:
11-118015812-T-A
gnomAD v3:
11-118145097-T-A
gnomAD v4:
11-118145097-T-A
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118145097T>A , CM000673.2:g.118145097T>A | GRCh38 |
| NC_000011.9:g.118015812T>A , CM000673.1:g.118015812T>A | GRCh37 |
| NC_000011.8:g.117521022T>A | NCBI36 |
| NG_011710.1:g.12819A>T , LRG_330:g.12819A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324727.9:c.194A>T MANE Select | ENSP00000322460.4:p.His65Leu | |
| ENST00000324727.8:c.194A>T | ENSP00000322460.4:p.His65Leu | |
| ENST00000415030.6:n.337A>T | ||
| ENST00000529878.1:c.62-3761A>T | ENSP00000436343.1:n.62-3761A>T | |
| ENST00000532138.1:n.604A>T | ||
| NM_001142348.1:c.62-3761A>T | NP_001135820.1:n.62-3761A>T | |
| NM_001142349.1:c.-137A>T | NP_001135821.1:n.-137A>T | |
| NM_174934.3:c.194A>T , LRG_330t1:c.194A>T | NP_777594.1:p.His65Leu | |
| NR_024527.1:n.373A>T | ||
| NM_001142348.2:c.62-3761A>T | NP_001135820.1:n.62-3761A>T | |
| NM_001142349.2:c.-137A>T | NP_001135821.1:n.-137A>T | |
| NR_024527.2:n.337A>T | ||
| NM_174934.4:c.194A>T MANE Select | NP_777594.1:p.His65Leu |