HGVS | Genome Assembly |
---|---|
NC_000019.10:g.38407003C>T , CM000681.2:g.38407003C>T | GRCh38 |
NC_000019.9:g.38897643C>T , CM000681.1:g.38897643C>T | GRCh37 |
NC_000019.8:g.43589483C>T | NCBI36 |
NG_054925.1:g.8880C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252530.10:c.844C>T MANE Select | ENSP00000252530.4:p.Arg282Ter | |
ENST00000252530.9:c.844C>T | ENSP00000252530.4:p.Arg282Ter | |
ENST00000343358.11:c.672+1368C>T | ENSP00000340348.6:n.672+1368C>T | |
ENST00000586372.5:n.2053C>T | ||
ENST00000588262.5:c.443C>T | ENSP00000467974.1:p.Pro148Leu | |
ENST00000588348.5:n.2118C>T | ||
ENST00000589027.1:n.260C>T | ||
NM_174905.3:c.844C>T | NP_777565.3:p.Arg282Ter | |
XR_935748.1:n.842C>T | ||
NM_001351675.1:c.672+1368C>T | NP_001338604.1:n.672+1368C>T | |
XR_935748.2:n.843C>T | ||
NM_174905.4:c.844C>T MANE Select | NP_777565.3:p.Arg282Ter |