Linked Data
MyVariant Identifiers:
chr3:g.49162862C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49125429C>A , CM000665.2:g.49125429C>A | GRCh38 |
| NC_000003.11:g.49162862C>A , CM000665.1:g.49162862C>A | GRCh37 |
| NC_000003.10:g.49137866C>A | NCBI36 |
| NG_008094.1:g.12738G>T | |
| NG_054716.1:g.510G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305544.9:c.2544G>T MANE Select | ENSP00000307156.4:p.Gly848= | |
| ENST00000305544.8:c.2544G>T | ENSP00000307156.4:p.Gly848= | |
| ENST00000418109.5:c.2544G>T | ENSP00000388325.1:p.Gly848= | |
| ENST00000464891.5:n.293G>T | ||
| ENST00000477701.1:n.417G>T | ||
| ENST00000483057.1:n.144G>T | ||
| ENST00000486298.5:n.426-260G>T | ||
| NM_002292.3:c.2544G>T | NP_002283.3:p.Gly848= | |
| XM_005265127.3:c.2544G>T | XP_005265184.1:p.Gly848= | |
| XM_005265127.4:c.2544G>T | XP_005265184.1:p.Gly848= | |
| NM_002292.4:c.2544G>T MANE Select | NP_002283.3:p.Gly848= |