HGVS | Genome Assembly |
---|---|
NC_000001.11:g.114707225C>T , CM000663.2:g.114707225C>T | GRCh38 |
NC_000001.10:g.115249846C>T , CM000663.1:g.115249846C>T | GRCh37 |
NC_000001.9:g.115051369C>T | NCBI36 |
NG_007572.1:g.14670G>A , LRG_92:g.14670G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000369535.5:c.*869G>A MANE Select | ENSP00000358548.4:n.*869G>A | |
ENST00000369535.4:c.*869G>A | ENSP00000358548.4:n.*869G>A | |
NM_002524.4:c.*869G>A | NP_002515.1:n.*869G>A | |
NM_002524.5:c.*869G>A MANE Select | NP_002515.1:n.*869G>A |