HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154954027T>G , CM000685.2:g.154954027T>G | GRCh38 |
NC_000023.10:g.154182302T>G , CM000685.1:g.154182302T>G | GRCh37 |
NC_000023.9:g.153835496T>G | NCBI36 |
NG_011403.1:g.73697A>C | |
NG_011403.2:g.73697A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000360256.9:c.1768A>C MANE Select | ENSP00000353393.4:p.Arg590= | |
ENST00000647125.1:c.*1644A>C | ENSP00000496062.1:n.*1644A>C | |
ENST00000360256.8:c.1768A>C | ENSP00000353393.4:p.Arg590= | |
NM_000132.3:c.1768A>C | NP_000123.1:p.Arg590= | |
XM_011531126.1:c.1663A>C | XP_011529428.1:p.Arg555= | |
NM_000132.4:c.1768A>C MANE Select | NP_000123.1:p.Arg590= |