Linked Data
MyVariant Identifiers:
chr17:g.42328659G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44251291G>T , CM000679.2:g.44251291G>T | GRCh38 |
| NC_000017.10:g.42328659G>T , CM000679.1:g.42328659G>T | GRCh37 |
| NC_000017.9:g.39684185G>T | NCBI36 |
| NG_007498.1:g.21844C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262418.12:c.2523C>A MANE Select | ENSP00000262418.6:p.Ile841= | |
| ENST00000262418.10:c.2523C>A | ENSP00000262418.6:p.Ile841= | |
| ENST00000399246.3:c.1425C>A | ENSP00000382190.3:p.Ile475= | |
| NM_000342.3:c.2523C>A | NP_000333.1:p.Ile841= | |
| XM_005257593.3:c.2328C>A | XP_005257650.1:p.Ile776= | |
| XM_011525129.1:c.2433C>A | XP_011523431.1:p.Ile811= | |
| XM_005257593.5:c.2328C>A | XP_005257650.1:p.Ile776= | |
| XM_011525129.2:c.2433C>A | XP_011523431.1:p.Ile811= | |
| NM_000342.4:c.2523C>A MANE Select | NP_000333.1:p.Ile841= |