HGVS | Genome Assembly |
---|---|
NC_000005.10:g.80674835C>T , CM000667.2:g.80674835C>T | GRCh38 |
NC_000005.9:g.79970654C>T , CM000667.1:g.79970654C>T | GRCh37 |
NC_000005.8:g.80006410C>T | NCBI36 |
NG_016607.1:g.25361C>T | |
NG_016607.2:g.25361C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000265081.7:c.1028-148C>T MANE Select | ENSP00000265081.6:n.1028-148C>T | |
ENST00000658259.1:c.860-148C>T | ENSP00000499617.1:n.860-148C>T | |
ENST00000667069.1:c.1028-148C>T | ENSP00000499502.1:n.1028-148C>T | |
ENST00000670357.1:c.1028-148C>T | ENSP00000499791.1:n.1028-148C>T | |
ENST00000265081.6:c.1028-148C>T | ENSP00000265081.6:n.1028-148C>T | |
NM_002439.4:c.1028-148C>T | NP_002430.3:n.1028-148C>T | |
NM_002439.5:c.1028-148C>T MANE Select | NP_002430.3:n.1028-148C>T |