Linked Data
MyVariant Identifiers:
chr1:g.55464947C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.54999274C>A , CM000663.2:g.54999274C>A | GRCh38 |
| NC_000001.10:g.55464947C>A , CM000663.1:g.55464947C>A | GRCh37 |
| NC_000001.9:g.55237535C>A | NCBI36 |
| NG_008965.1:g.5331C>A | |
| NG_008965.2:g.5342C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651561.1:c.88C>A MANE Select | ENSP00000498282.1:p.Arg30= | |
| ENST00000371265.4:c.88C>A | ENSP00000360312.4:p.Arg30= | |
| NM_057176.2:c.88C>A | NP_476517.1:p.Arg30= | |
| NM_057176.3:c.88C>A MANE Select | NP_476517.1:p.Arg30= |