HGVS | Genome Assembly |
---|---|
NC_000004.12:g.119186055C>T , CM000666.2:g.119186055C>T | GRCh38 |
NC_000004.11:g.120107210C>T , CM000666.1:g.120107210C>T | GRCh37 |
NC_000004.10:g.120326658C>T | NCBI36 |
NG_029747.1:g.55272C>T , LRG_396:g.55272C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000307128.6:c.650C>T MANE Select | ENSP00000306997.6:p.Pro217Leu | |
ENST00000307128.5:c.650C>T | ENSP00000306997.5:p.Pro217Leu | |
NM_016599.4:c.650C>T , LRG_396t1:c.650C>T | NP_057683.1:p.Pro217Leu | |
NM_016599.5:c.650C>T MANE Select | NP_057683.1:p.Pro217Leu |