HGVS | Genome Assembly |
---|---|
NC_000023.11:g.38408905T= , CM000685.2:g.38408905T= | GRCh38 |
NC_000023.10:g.38268158T= , CM000685.1:g.38268158T= | GRCh37 |
NC_000023.9:g.38153102T= | NCBI36 |
NG_008471.1:g.61423T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000039007.5:c.747T= MANE Select | ENSP00000039007.4:p.Asp249= | |
ENST00000643344.1:c.*497T= | ENSP00000496606.1:n.*497T= | |
ENST00000039007.4:c.747T= | ENSP00000039007.4:p.Asp249= | |
ENST00000465127.1:c.172-257216T= | ENSP00000417050.1:n.172-257216T= | |
NM_000531.5:c.747T= | NP_000522.3:p.Asp249= | |
XM_017029556.1:c.747T= | XP_016885045.1:p.Asp249= | |
NM_000531.6:c.747T= MANE Select | NP_000522.3:p.Asp249= |