Linked Data
MyVariant Identifiers:
chr17:g.40336523T>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42184505T>A , CM000679.2:g.42184505T>A | GRCh38 |
| NC_000017.10:g.40336523T>A , CM000679.1:g.40336523T>A | GRCh37 |
| NC_000017.9:g.37590049T>A | NCBI36 |
| NG_011448.1:g.5948A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293330.1:c.45A>T MANE Select | ENSP00000293330.1:p.Leu15= | |
| NM_001524.1:c.45A>T MANE Select | NP_001515.1:p.Leu15= |