HGVS | Genome Assembly |
---|---|
NC_000001.11:g.17381971A>T , CM000663.2:g.17381971A>T | GRCh38 |
NC_000001.10:g.17708466A>T , CM000663.1:g.17708466A>T | GRCh37 |
NC_000001.9:g.17581053A>T | NCBI36 |
NG_032943.1:g.14726A>T | |
NG_032943.2:g.14726A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000619609.1:c.558A>T MANE Select | ENSP00000483125.1:p.Ile186= | |
NM_207421.4:c.558A>T MANE Select | NP_997304.3:p.Ile186= |