Linked Data
ClinVar Variation Id:
1739252
ClinVar RCV Id:
RCV002330027
MyVariant Identifiers:
chr1:g.17354358A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17027863A>G , CM000663.2:g.17027863A>G | GRCh38 |
| NC_000001.10:g.17354358A>G , CM000663.1:g.17354358A>G | GRCh37 |
| NC_000001.9:g.17226945A>G | NCBI36 |
| NG_012340.1:g.31308T>C , LRG_316:g.31308T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.255T>C | ENSP00000481376.2:p.Asp85= | |
| ENST00000491274.6:c.384T>C | ENSP00000480482.2:p.Asp128= | |
| ENST00000375499.8:c.426T>C MANE Select | ENSP00000364649.3:p.Asp142= | |
| ENST00000375499.7:c.426T>C | ENSP00000364649.3:p.Asp142= | |
| ENST00000463045.2:c.255T>C | ENSP00000481376.1:p.Asp85= | |
| ENST00000475506.1:n.343T>C | ||
| ENST00000485515.5:n.360T>C | ||
| ENST00000491274.5:c.384T>C | ENSP00000480482.1:p.Asp128= | |
| NM_003000.2:c.426T>C , LRG_316t1:c.426T>C | NP_002991.2:p.Asp142= | |
| NM_003000.3:c.426T>C MANE Select | NP_002991.2:p.Asp142= |