HGVS | Genome Assembly |
---|---|
NC_000005.10:g.135028729C>T , CM000667.2:g.135028729C>T | GRCh38 |
NC_000005.9:g.134364419C>T , CM000667.1:g.134364419C>T | GRCh37 |
NC_000005.8:g.134392318C>T | NCBI36 |
NG_012114.1:g.10546G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000265340.12:c.*50G>A MANE Select | ENSP00000265340.6:n.*50G>A | |
ENST00000265340.11:c.*50G>A | ENSP00000265340.6:n.*50G>A | |
ENST00000506438.5:c.*50G>A | ENSP00000427542.1:n.*50G>A | |
NM_002653.4:c.*50G>A | NP_002644.4:n.*50G>A | |
NM_002653.5:c.*50G>A MANE Select | NP_002644.4:n.*50G>A |