HGVS | Genome Assembly |
---|---|
NC_000002.12:g.25229322G>T , CM000664.2:g.25229322G>T | GRCh38 |
NC_000002.11:g.25452191G>T , CM000664.1:g.25452191G>T | GRCh37 |
NC_000002.10:g.25305695G>T | NCBI36 |
NG_029465.2:g.118269C>A , LRG_459:g.118269C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000321117.10:c.*4957C>A MANE Select | ENSP00000324375.5:n.*4957C>A | |
ENST00000264709.7:c.*4957C>A | ENSP00000264709.3:n.*4957C>A | |
NR_135490.2:n.8126C>A | ||
NM_022552.5:c.*4957C>A MANE Select | NP_072046.2:n.*4957C>A |