HGVS | Genome Assembly |
---|---|
NC_000010.11:g.129467289G>T , CM000672.2:g.129467289G>T | GRCh38 |
NC_000010.10:g.131265553G>T , CM000672.1:g.131265553G>T | GRCh37 |
NC_000010.9:g.131155543G>T | NCBI36 |
NG_052673.1:g.5106G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000306010.8:c.74G>T | ENSP00000302111.7:p.Cys25Phe | |
ENST00000651593.1:c.-20G>T MANE Select | ENSP00000498729.1:n.-20G>T | |
ENST00000306010.7:c.74G>T | ENSP00000302111.7:p.Cys25Phe | |
ENST00000482547.1:n.28G>T | ||
ENST00000482653.1:n.61G>T | ||
NM_002412.3:c.74G>T | NP_002403.2:p.Cys25Phe | |
NM_002412.4:c.74G>T | NP_002403.2:p.Cys25Phe | |
NM_002412.5:c.-20G>T MANE Select | NP_002403.3:n.-20G>T |