HGVS | Genome Assembly |
---|---|
NC_000002.12:g.189575210G>T , CM000664.2:g.189575210G>T | GRCh38 |
NC_000002.11:g.190439936G>T , CM000664.1:g.190439936G>T | GRCh37 |
NC_000002.10:g.190148181G>T | NCBI36 |
NG_009027.1:g.10602C>A , LRG_837:g.10602C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261024.7:c.222C>A MANE Select | ENSP00000261024.3:p.Val74= | |
ENST00000261024.6:c.222C>A | ENSP00000261024.2:p.Val74= | |
ENST00000418714.1:n.663C>A | ||
ENST00000427241.5:c.222C>A | ENSP00000390005.1:p.Val74= | |
ENST00000479598.5:n.503C>A | ||
NM_014585.5:c.222C>A , LRG_837t1:c.222C>A | NP_055400.1:p.Val74= | |
XM_005246505.1:c.102C>A | XP_005246562.1:p.Val34= | |
XM_005246505.2:c.102C>A | XP_005246562.1:p.Val34= | |
XM_017003938.2:c.102C>A | XP_016859427.1:p.Val34= | |
NM_014585.6:c.222C>A MANE Select | NP_055400.1:p.Val74= |