HGVS | Genome Assembly |
---|---|
NC_000001.11:g.17382049C>A , CM000663.2:g.17382049C>A | GRCh38 |
NC_000001.10:g.17708544C>A , CM000663.1:g.17708544C>A | GRCh37 |
NC_000001.9:g.17581131C>A | NCBI36 |
NG_032943.1:g.14804C>A | |
NG_032943.2:g.14804C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000619609.1:c.636C>A MANE Select | ENSP00000483125.1:p.Thr212= | |
NM_207421.4:c.636C>A MANE Select | NP_997304.3:p.Thr212= |