Linked Data
ClinVar Variation Id:
2924312
ClinVar RCV Id:
RCV003786062
gnomAD v4:
1-17028627-G-A
MyVariant Identifiers:
chr1:g.17355122G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17028627G>A , CM000663.2:g.17028627G>A | GRCh38 |
| NC_000001.10:g.17355122G>A , CM000663.1:g.17355122G>A | GRCh37 |
| NC_000001.9:g.17227709G>A | NCBI36 |
| NG_012340.1:g.30544C>T , LRG_316:g.30544C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000463045.3:c.225C>T | ENSP00000481376.2:p.His75= | |
| ENST00000491274.6:c.354C>T | ENSP00000480482.2:p.His118= | |
| ENST00000375499.8:c.396C>T MANE Select | ENSP00000364649.3:p.His132= | |
| ENST00000375499.7:c.396C>T | ENSP00000364649.3:p.His132= | |
| ENST00000463045.2:c.225C>T | ENSP00000481376.1:p.His75= | |
| ENST00000475506.1:n.313C>T | ||
| ENST00000485515.5:n.357+27C>T | ||
| ENST00000491274.5:c.354C>T | ENSP00000480482.1:p.His118= | |
| NM_003000.2:c.396C>T , LRG_316t1:c.396C>T | NP_002991.2:p.His132= | |
| NM_003000.3:c.396C>T MANE Select | NP_002991.2:p.His132= |