HGVS | Genome Assembly |
---|---|
NC_000005.10:g.159316215G>A , CM000667.2:g.159316215G>A | GRCh38 |
NC_000005.9:g.158743223G>A , CM000667.1:g.158743223G>A | GRCh37 |
NC_000005.8:g.158675801G>A | NCBI36 |
NG_009618.1:g.19259C>T , LRG_71:g.19259C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000696750.1:c.*1-115C>T | ENSP00000512849.1:n.*1-115C>T | |
ENST00000696751.1:c.*483-115C>T | ENSP00000512850.1:n.*483-115C>T | |
ENST00000231228.3:c.*1-115C>T MANE Select | ENSP00000231228.2:n.*1-115C>T | |
ENST00000231228.2:c.*1-115C>T | ENSP00000231228.2:n.*1-115C>T | |
NM_002187.2:c.*1-115C>T , LRG_71t1:c.*1-115C>T | NP_002178.2:n.*1-115C>T | |
NM_002187.3:c.*1-115C>T MANE Select | NP_002178.2:n.*1-115C>T |