HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154957069C= , CM000685.2:g.154957069C= | GRCh38 |
NC_000023.10:g.154185344C= , CM000685.1:g.154185344C= | GRCh37 |
NC_000023.9:g.153838538C= | NCBI36 |
NG_011403.1:g.70655G= | |
NG_011403.2:g.70655G= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000360256.9:c.1640G= MANE Select | ENSP00000353393.4:p.Cys547= | |
ENST00000647125.1:c.*1516G= | ENSP00000496062.1:n.*1516G= | |
ENST00000360256.8:c.1640G= | ENSP00000353393.4:p.Cys547= | |
NM_000132.3:c.1640G= | NP_000123.1:p.Cys547= | |
XM_011531126.1:c.1535G= | XP_011529428.1:p.Cys512= | |
NM_000132.4:c.1640G= MANE Select | NP_000123.1:p.Cys547= |