HGVS | Genome Assembly |
---|---|
NC_000012.12:g.5044195C>T , CM000674.2:g.5044195C>T | GRCh38 |
NC_000012.11:g.5153361C>T , CM000674.1:g.5153361C>T | GRCh37 |
NC_000012.10:g.5023622C>T | NCBI36 |
NG_012198.1:g.5277C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252321.5:c.48C>T MANE Select | ENSP00000252321.3:p.Val16= | |
ENST00000252321.4:c.48C>T | ENSP00000252321.3:p.Val16= | |
NM_002234.3:c.48C>T | NP_002225.2:p.Val16= | |
NM_002234.4:c.48C>T MANE Select | NP_002225.2:p.Val16= |