HGVS | Genome Assembly |
---|---|
NC_000019.10:g.7530376C>T , CM000681.2:g.7530376C>T | GRCh38 |
NC_000019.9:g.7595262C>T , CM000681.1:g.7595262C>T | GRCh37 |
NC_000019.8:g.7501262C>T | NCBI36 |
NG_013374.1:g.1225C>T | |
NG_015806.1:g.12767C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000264079.11:c.1450C>T MANE Select | ENSP00000264079.5:p.Gln484Ter | |
ENST00000264079.10:c.1450C>T | ENSP00000264079.5:p.Gln484Ter | |
ENST00000394321.9:n.1765C>T | ||
ENST00000594692.1:n.446C>T | ||
ENST00000595860.5:n.633C>T | ||
ENST00000599334.1:c.237-59C>T | ||
NM_020533.2:c.1450C>T | NP_065394.1:p.Gln484Ter | |
NM_020533.3:c.1450C>T MANE Select | NP_065394.1:p.Gln484Ter |