HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31969753C>T , CM000668.2:g.31969753C>T | GRCh38 |
NC_000006.11:g.31937530C>T , CM000668.1:g.31937530C>T | GRCh37 |
NC_000006.10:g.32045509C>T | NCBI36 |
NG_032652.1:g.15950C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000461073.6:c.*2827C>T | ENSP00000419905.1:n.*2827C>T | |
ENST00000697831.1:c.*38C>T | ENSP00000513453.1:n.*38C>T | |
ENST00000697835.1:c.*3297C>T | ENSP00000513455.1:n.*3297C>T | |
ENST00000697838.1:c.*38C>T | ENSP00000513457.1:n.*38C>T | |
ENST00000375394.6:c.*38C>T | ENSP00000364543.2:n.*38C>T | |
NM_006929.4:c.*38C>T | NP_008860.4:n.*38C>T | |
XR_926301.3:n.3795C>T |