Linked Data
MyVariant Identifiers:
chr3:g.42729768G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.42688276G>A , CM000665.2:g.42688276G>A | GRCh38 |
| NC_000003.11:g.42729768G>A , CM000665.1:g.42729768G>A | GRCh37 |
| NC_000003.10:g.42704772G>A | NCBI36 |
| NG_033035.1:g.7758G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287777.5:c.1287G>A MANE Select | ENSP00000287777.4:p.Leu429= | |
| ENST00000287777.4:c.1287G>A | ENSP00000287777.4:p.Leu429= | |
| NM_152393.3:c.1287G>A | NP_689606.2:p.Leu429= | |
| XM_005264866.2:c.1287G>A | XP_005264923.1:p.Leu429= | |
| NM_152393.4:c.1287G>A MANE Select | NP_689606.2:p.Leu429= |