HGVS | Genome Assembly |
---|---|
NC_000011.10:g.116832984A= , CM000673.2:g.116832984A= | GRCh38 |
NC_000011.9:g.116703700A= , CM000673.1:g.116703700A= | GRCh37 |
NC_000011.8:g.116208910A= | NCBI36 |
NG_008949.1:g.8077A= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000227667.8:c.*100A= MANE Select | ENSP00000227667.2:n.*100A= | |
ENST00000227667.7:c.*100A= | ENSP00000227667.2:n.*100A= | |
ENST00000375345.3:c.*100A= | ENSP00000364494.1:n.*100A= | |
ENST00000630701.1:c.454A= | ENSP00000486182.1:n.454A= | |
NM_000040.1:c.*100A= | NP_000031.1:n.*100A= | |
NM_000040.2:c.*100A= | NP_000031.1:n.*100A= | |
NM_000040.3:c.*100A= MANE Select | NP_000031.1:n.*100A= |