HGVS | Genome Assembly |
---|---|
NC_000003.12:g.64160006G>A , CM000665.2:g.64160006G>A | GRCh38 |
NC_000003.11:g.64145682G>A , CM000665.1:g.64145682G>A | GRCh37 |
NC_000003.10:g.64120722G>A | NCBI36 |
NG_031930.1:g.70450C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000295902.11:c.498C>T | ENSP00000295902.7:p.Arg166= | |
ENST00000564377.6:c.330C>T | ENSP00000455004.2:p.Arg110= | |
ENST00000638394.2:c.330C>T MANE Select | ENSP00000492363.1:p.Arg110= | |
ENST00000639113.1:n.495C>T | ||
ENST00000640303.1:n.969C>T | ||
ENST00000295902.10:c.330C>T | ENSP00000295902.6:p.Arg110= | |
ENST00000498162.1:c.330C>T | ENSP00000419951.1:p.Arg110= | |
ENST00000564377.5:c.498C>T | ENSP00000455004.1:p.Arg166= | |
NM_198859.3:c.330C>T | NP_942559.1:p.Arg110= | |
XM_011533432.1:c.606C>T | XP_011531734.1:p.Arg202= | |
XM_011533433.1:c.606C>T | XP_011531735.1:p.Arg202= | |
XM_011533434.1:c.498C>T | XP_011531736.1:p.Arg166= | |
XM_011533435.1:c.498C>T | XP_011531737.1:p.Arg166= | |
XM_011533436.1:c.330C>T | XP_011531738.1:p.Arg110= | |
XM_011533437.1:c.330C>T | XP_011531739.1:p.Arg110= | |
XM_011533439.1:c.330C>T | XP_011531741.1:p.Arg110= | |
XM_011533440.1:c.606C>T | XP_011531742.1:p.Arg202= | |
XM_011533432.2:c.606C>T | XP_011531734.1:p.Arg202= | |
XM_011533433.2:c.606C>T | XP_011531735.1:p.Arg202= | |
XM_011533434.2:c.498C>T | XP_011531736.1:p.Arg166= | |
XM_011533435.2:c.498C>T | XP_011531737.1:p.Arg166= | |
XM_011533436.3:c.330C>T | XP_011531738.1:p.Arg110= | |
XM_011533437.2:c.330C>T | XP_011531739.1:p.Arg110= | |
XM_011533440.2:c.606C>T | XP_011531742.1:p.Arg202= | |
XM_017005798.1:c.330C>T | XP_016861287.1:p.Arg110= | |
XM_017005799.1:c.-43C>T | XP_016861288.1:n.-43C>T | |
NM_198859.4:c.330C>T MANE Select | NP_942559.1:p.Arg110= | |
NM_001370528.1:c.330C>T | NP_001357457.1:p.Arg110= |