Linked Data
MyVariant Identifiers:
chr17:g.40336448A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42184430A>G , CM000679.2:g.42184430A>G | GRCh38 |
| NC_000017.10:g.40336448A>G , CM000679.1:g.40336448A>G | GRCh37 |
| NC_000017.9:g.37589974A>G | NCBI36 |
| NG_011448.1:g.6023T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293330.1:c.120T>C MANE Select | ENSP00000293330.1:p.Cys40= | |
| NM_001524.1:c.120T>C MANE Select | NP_001515.1:p.Cys40= |