Linked Data
MyVariant Identifiers:
chr17:g.56350881G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58273520G>A , CM000679.2:g.58273520G>A | GRCh38 |
| NC_000017.10:g.56350881G>A , CM000679.1:g.56350881G>A | GRCh37 |
| NC_000017.9:g.53705880G>A | NCBI36 |
| NG_009629.1:g.12416C>T , LRG_84:g.12416C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000578493.2:n.848C>T | ||
| ENST00000699291.1:c.640C>T | ENSP00000514272.1:n.640C>T | |
| ENST00000699292.1:n.555C>T | ||
| ENST00000225275.4:c.1515C>T MANE Select | ENSP00000225275.3:p.Ile505= | |
| ENST00000225275.3:c.1515C>T | ENSP00000225275.3:p.Ile505= | |
| NM_000250.1:c.1515C>T , LRG_84t1:c.1515C>T | NP_000241.1:p.Ile505= | |
| XM_011524821.1:c.1701C>T | XP_011523123.1:p.Ile567= | |
| XM_011524822.1:c.1230C>T | XP_011523124.1:p.Ile410= | |
| XM_011524823.1:c.*64C>T | XP_011523125.1:n.*64C>T | |
| NM_000250.2:c.1515C>T MANE Select | NP_000241.1:p.Ile505= |