Linked Data
MyVariant Identifiers:
chr1:g.6172276T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.6112216T>C , CM000663.2:g.6112216T>C | GRCh38 |
| NC_000001.10:g.6172276T>C , CM000663.1:g.6172276T>C | GRCh37 |
| NC_000001.9:g.6094863T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262450.8:c.5064A>G MANE Select | ENSP00000262450.3:p.Glu1688= | |
| ENST00000262450.7:c.5064A>G | ENSP00000262450.3:p.Glu1688= | |
| ENST00000377999.5:c.1967A>G | ENSP00000367238.2:n.1967A>G | |
| ENST00000462991.5:c.3317A>G | ||
| ENST00000496404.1:c.3782A>G | ENSP00000433676.1:n.3782A>G | |
| NM_015557.2:c.5064A>G | NP_056372.1:p.Glu1688= | |
| NM_015557.3:c.5064A>G MANE Select | NP_056372.1:p.Glu1688= |