Linked Data
MyVariant Identifiers:
chr17:g.56350932T>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58273571T>A , CM000679.2:g.58273571T>A | GRCh38 |
| NC_000017.10:g.56350932T>A , CM000679.1:g.56350932T>A | GRCh37 |
| NC_000017.9:g.53705931T>A | NCBI36 |
| NG_009629.1:g.12365A>T , LRG_84:g.12365A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000578493.2:n.797A>T | ||
| ENST00000699291.1:c.589A>T | ENSP00000514272.1:n.589A>T | |
| ENST00000699292.1:n.504A>T | ||
| ENST00000225275.4:c.1464A>T MANE Select | ENSP00000225275.3:p.Pro488= | |
| ENST00000225275.3:c.1464A>T | ENSP00000225275.3:p.Pro488= | |
| NM_000250.1:c.1464A>T , LRG_84t1:c.1464A>T | NP_000241.1:p.Pro488= | |
| XM_011524821.1:c.1650A>T | XP_011523123.1:p.Pro550= | |
| XM_011524822.1:c.1179A>T | XP_011523124.1:p.Pro393= | |
| XM_011524823.1:c.*13A>T | XP_011523125.1:n.*13A>T | |
| NM_000250.2:c.1464A>T MANE Select | NP_000241.1:p.Pro488= |