HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31969755C>A , CM000668.2:g.31969755C>A | GRCh38 |
NC_000006.11:g.31937532C>A , CM000668.1:g.31937532C>A | GRCh37 |
NC_000006.10:g.32045511C>A | NCBI36 |
NG_032652.1:g.15952C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000461073.6:c.*2829C>A | ENSP00000419905.1:n.*2829C>A | |
ENST00000697831.1:c.*40C>A | ENSP00000513453.1:n.*40C>A | |
ENST00000697835.1:c.*3299C>A | ENSP00000513455.1:n.*3299C>A | |
ENST00000697838.1:c.*40C>A | ENSP00000513457.1:n.*40C>A | |
ENST00000375394.6:c.*40C>A | ENSP00000364543.2:n.*40C>A | |
NM_006929.4:c.*40C>A | NP_008860.4:n.*40C>A | |
XR_926301.3:n.3797C>A |