Linked Data
MyVariant Identifiers:
chr17:g.40336445A>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42184427A>T , CM000679.2:g.42184427A>T | GRCh38 |
| NC_000017.10:g.40336445A>T , CM000679.1:g.40336445A>T | GRCh37 |
| NC_000017.9:g.37589971A>T | NCBI36 |
| NG_011448.1:g.6026T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293330.1:c.123T>A MANE Select | ENSP00000293330.1:p.Arg41= | |
| NM_001524.1:c.123T>A MANE Select | NP_001515.1:p.Arg41= |