HGVS | Genome Assembly |
---|---|
NC_000020.11:g.23629625C>T , CM000682.2:g.23629625C>T | GRCh38 |
NC_000020.10:g.23610262C>T , CM000682.1:g.23610262C>T | GRCh37 |
NC_000020.9:g.23558262C>T | NCBI36 |
NG_012887.2:g.13313G>A | |
NG_012887.3:g.13313G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000398411.5:c.*3-160G>A | ENSP00000381448.1:n.*3-160G>A | |
NM_001288614.1:c.*3-160G>A | NP_001275543.1:n.*3-160G>A | |
NM_001288614.2:c.*3-160G>A | NP_001275543.1:n.*3-160G>A |