Linked Data
ClinVar Variation Id:
2953496
ClinVar RCV Id:
RCV003810614
MyVariant Identifiers:
chr1:g.17349178G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17022683G>T , CM000663.2:g.17022683G>T | GRCh38 |
| NC_000001.10:g.17349178G>T , CM000663.1:g.17349178G>T | GRCh37 |
| NC_000001.9:g.17221765G>T | NCBI36 |
| NG_012340.1:g.36488C>A , LRG_316:g.36488C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.519C>A | ENSP00000481376.2:p.Arg173= | |
| ENST00000491274.6:c.648C>A | ENSP00000480482.2:p.Arg216= | |
| ENST00000375499.8:c.690C>A MANE Select | ENSP00000364649.3:p.Arg230= | |
| ENST00000375499.7:c.690C>A | ENSP00000364649.3:p.Arg230= | |
| ENST00000475049.5:n.115C>A | ||
| ENST00000485092.5:n.354C>A | ||
| ENST00000485515.5:n.624C>A | ||
| NM_003000.2:c.690C>A , LRG_316t1:c.690C>A | NP_002991.2:p.Arg230= | |
| NM_003000.3:c.690C>A MANE Select | NP_002991.2:p.Arg230= |