HGVS | Genome Assembly |
---|---|
NC_000023.11:g.74422065C>T , CM000685.2:g.74422065C>T | GRCh38 |
NC_000023.10:g.73641900C>T , CM000685.1:g.73641900C>T | GRCh37 |
NC_000023.9:g.73558625C>T | NCBI36 |
NG_011641.1:g.5816C>T | |
NG_011641.2:g.5816C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000587091.6:c.428C>T MANE Select | ENSP00000465734.1:p.Ala143Val | |
ENST00000636771.1:c.174C>T | ||
ENST00000587091.5:c.428C>T | ENSP00000465734.1:p.Ala143Val | |
NM_006517.4:c.428C>T | NP_006508.2:p.Ala143Val | |
XM_005262294.1:c.428C>T | XP_005262351.1:p.Ala143Val | |
XM_011531015.1:c.428C>T | XP_011529317.1:p.Ala143Val | |
NM_006517.5:c.428C>T MANE Select | NP_006508.2:p.Ala143Val |