Linked Data
MyVariant Identifiers:
chr17:g.28576077A>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.30249059A>T , CM000679.2:g.30249059A>T | GRCh38 |
| NC_000017.10:g.28576077A>T , CM000679.1:g.28576077A>T | GRCh37 |
| NC_000017.9:g.25600203A>T | NCBI36 |
| NG_011440.1:g.47998T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261714.11:c.1326T>A MANE Select | ENSP00000261714.6:p.Ile442= | |
| ENST00000261714.10:c.1326T>A | ENSP00000261714.6:p.Ile442= | |
| ENST00000578090.5:c.*1000T>A | ENSP00000462353.1:n.*1000T>A | |
| ENST00000578795.1:n.1225T>A | ||
| NM_000386.3:c.1326T>A | NP_000377.1:p.Ile442= | |
| XR_934653.1:n.701-728A>T | ||
| XR_934655.1:n.701-3015A>T | ||
| NM_000386.4:c.1326T>A MANE Select | NP_000377.1:p.Ile442= |