HGVS | Genome Assembly |
---|---|
NC_000002.12:g.189564119A>T , CM000664.2:g.189564119A>T | GRCh38 |
NC_000002.11:g.190428845A>T , CM000664.1:g.190428845A>T | GRCh37 |
NC_000002.10:g.190137090A>T | NCBI36 |
NG_009027.1:g.21693T>A , LRG_837:g.21693T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261024.7:c.867T>A MANE Select | ENSP00000261024.3:p.Ala289= | |
ENST00000261024.6:c.867T>A | ENSP00000261024.2:p.Ala289= | |
NM_014585.5:c.867T>A , LRG_837t1:c.867T>A | NP_055400.1:p.Ala289= | |
XM_005246505.1:c.747T>A | XP_005246562.1:p.Ala249= | |
XM_005246505.2:c.747T>A | XP_005246562.1:p.Ala249= | |
XM_017003938.2:c.747T>A | XP_016859427.1:p.Ala249= | |
NM_014585.6:c.867T>A MANE Select | NP_055400.1:p.Ala289= |