Linked Data
MyVariant Identifiers:
chr3:g.52258251A>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52224235A>C , CM000665.2:g.52224235A>C | GRCh38 |
| NC_000003.11:g.52258251A>C , CM000665.1:g.52258251A>C | GRCh37 |
| NC_000003.10:g.52233291A>C | NCBI36 |
| NG_033933.1:g.6929T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360658.3:c.81T>G MANE Select | ENSP00000353874.2:p.Gly27= | |
| ENST00000360658.2:c.81T>G | ENSP00000353874.2:p.Gly27= | |
| ENST00000478201.1:c.255T>G | ||
| ENST00000494383.1:c.541T>G | ||
| NM_017442.3:c.81T>G | NP_059138.1:p.Gly27= | |
| NM_017442.4:c.81T>G MANE Select | NP_059138.1:p.Gly27= |