Linked Data
MyVariant Identifiers:
chr1:g.168262448C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.168293210C>A , CM000663.2:g.168293210C>A | GRCh38 |
| NC_000001.10:g.168262448C>A , CM000663.1:g.168262448C>A | GRCh37 |
| NC_000001.9:g.166529072C>A | NCBI36 |
| NG_008244.1:g.17171C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367821.8:c.535C>A MANE Select | ENSP00000356795.3:p.Arg179= | |
| ENST00000367821.7:c.535C>A | ENSP00000356795.3:p.Arg179= | |
| ENST00000431969.5:c.332C>A | ||
| NM_005149.2:c.535C>A | NP_005140.1:p.Arg179= | |
| NM_005149.3:c.535C>A MANE Select | NP_005140.1:p.Arg179= |