HGVS | Genome Assembly |
---|---|
NC_000023.11:g.47572869C= , CM000685.2:g.47572869C= | GRCh38 |
NC_000023.10:g.47432268C= , CM000685.1:g.47432268C= | GRCh37 |
NC_000023.9:g.47317212C= | NCBI36 |
NG_008437.1:g.51989G= | |
NG_016339.1:g.16753C= | |
NG_016339.2:g.16753C= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000295987.13:c.2113G= MANE Select | ENSP00000295987.7:p.Asp705= | |
ENST00000340666.5:c.*65G= | ENSP00000343206.4:n.*65G= | |
ENST00000640721.1:c.163G= | ENSP00000492857.1:p.Asp55= | |
ENST00000295987.11:c.2113G= | ENSP00000295987.7:p.Asp705= | |
ENST00000340666.4:c.*65G= | ENSP00000343206.4:n.*65G= | |
NM_006950.3:c.2113G= MANE Select | NP_008881.2:p.Asp705= | |
NM_133499.2:c.*65G= | NP_598006.1:n.*65G= |