Linked Data
ClinVar Variation Id:
2285506
ClinVar RCV Id:
RCV002840785
dbSNP Id:
rs1482617024
gnomAD v3:
12-121839936-T-A
gnomAD v4:
12-121839936-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.121839936T>A , CM000674.2:g.121839936T>A | GRCh38 |
| NC_000012.11:g.122277842T>A , CM000674.1:g.122277842T>A | GRCh37 |
| NC_000012.10:g.120762225T>A | NCBI36 |
| NG_016461.1:g.53676A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000289004.8:c.1067A>T MANE Select | ENSP00000289004.4:p.His356Leu | |
| ENST00000543163.5:c.950A>T | ENSP00000441677.1:p.His317Leu | |
| NM_001171993.1:c.950A>T | NP_001165464.1:p.His317Leu | |
| NM_002150.2:c.1067A>T | NP_002141.1:p.His356Leu | |
| NM_002150.3:c.1067A>T MANE Select | NP_002141.2:p.His356Leu | |
| NM_001171993.2:c.950A>T | NP_001165464.1:p.His317Leu |