HGVS | Genome Assembly |
---|---|
NC_000001.11:g.114707221T>A , CM000663.2:g.114707221T>A | GRCh38 |
NC_000001.10:g.115249842T>A , CM000663.1:g.115249842T>A | GRCh37 |
NC_000001.9:g.115051365T>A | NCBI36 |
NG_007572.1:g.14674A>T , LRG_92:g.14674A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000369535.5:c.*873A>T MANE Select | ENSP00000358548.4:n.*873A>T | |
ENST00000369535.4:c.*873A>T | ENSP00000358548.4:n.*873A>T | |
NM_002524.4:c.*873A>T | NP_002515.1:n.*873A>T | |
NM_002524.5:c.*873A>T MANE Select | NP_002515.1:n.*873A>T |