HGVS | Genome Assembly |
---|---|
NC_000006.12:g.16145040A>T , CM000668.2:g.16145040A>T | GRCh38 |
NC_000006.11:g.16145271A>T , CM000668.1:g.16145271A>T | GRCh37 |
NC_000006.10:g.16253250A>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000356840.8:c.971A>T MANE Select | ENSP00000349298.3:p.Asp324Val | |
ENST00000349606.4:c.428A>T | ENSP00000008686.5:p.Asp143Val | |
ENST00000356840.7:c.971A>T | ENSP00000349298.3:p.Asp324Val | |
NM_013262.3:c.971A>T | NP_037394.2:p.Asp324Val | |
XM_005249032.2:c.806A>T | XP_005249089.1:p.Asp269Val | |
XM_005249033.2:c.428A>T | XP_005249090.1:p.Asp143Val | |
XM_005249033.3:c.428A>T | XP_005249090.1:p.Asp143Val | |
XM_017010789.1:c.971A>T | XP_016866278.1:p.Asp324Val | |
NM_013262.4:c.971A>T MANE Select | NP_037394.2:p.Asp324Val |