Linked Data
ClinVar Variation Id:
1994198
ClinVar RCV Id:
RCV002806682
MyVariant Identifiers:
chr1:g.17354340T>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17027845T>A , CM000663.2:g.17027845T>A | GRCh38 |
| NC_000001.10:g.17354340T>A , CM000663.1:g.17354340T>A | GRCh37 |
| NC_000001.9:g.17226927T>A | NCBI36 |
| NG_012340.1:g.31326A>T , LRG_316:g.31326A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.273A>T | ENSP00000481376.2:p.Ala91= | |
| ENST00000491274.6:c.402A>T | ENSP00000480482.2:p.Ala134= | |
| ENST00000375499.8:c.444A>T MANE Select | ENSP00000364649.3:p.Ala148= | |
| ENST00000375499.7:c.444A>T | ENSP00000364649.3:p.Ala148= | |
| ENST00000463045.2:c.273A>T | ENSP00000481376.1:p.Ala91= | |
| ENST00000475506.1:n.361A>T | ||
| ENST00000485515.5:n.378A>T | ||
| ENST00000491274.5:c.402A>T | ENSP00000480482.1:p.Ala134= | |
| NM_003000.2:c.444A>T , LRG_316t1:c.444A>T | NP_002991.2:p.Ala148= | |
| NM_003000.3:c.444A>T MANE Select | NP_002991.2:p.Ala148= |