HGVS | Genome Assembly |
---|---|
NC_000002.12:g.189563943G>A , CM000664.2:g.189563943G>A | GRCh38 |
NC_000002.11:g.190428669G>A , CM000664.1:g.190428669G>A | GRCh37 |
NC_000002.10:g.190136914G>A | NCBI36 |
NG_009027.1:g.21869C>T , LRG_837:g.21869C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000261024.7:c.1043C>T MANE Select | ENSP00000261024.3:p.Ala348Val | |
ENST00000261024.6:c.1043C>T | ENSP00000261024.2:p.Ala348Val | |
NM_014585.5:c.1043C>T , LRG_837t1:c.1043C>T | NP_055400.1:p.Ala348Val | |
XM_005246505.1:c.923C>T | XP_005246562.1:p.Ala308Val | |
XM_005246505.2:c.923C>T | XP_005246562.1:p.Ala308Val | |
XM_017003938.2:c.923C>T | XP_016859427.1:p.Ala308Val | |
NM_014585.6:c.1043C>T MANE Select | NP_055400.1:p.Ala348Val |