HGVS | Genome Assembly |
---|---|
NC_000023.11:g.54495172C>T , CM000685.2:g.54495172C>T | GRCh38 |
NC_000023.10:g.54521605C>T , CM000685.1:g.54521605C>T | GRCh37 |
NC_000023.9:g.54538330C>T | NCBI36 |
NG_008054.1:g.5995G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000375135.4:c.261G>A MANE Select | ENSP00000364277.3:p.Arg87= | |
ENST00000375135.3:c.261G>A | ENSP00000364277.3:p.Arg87= | |
NM_004463.2:c.261G>A | NP_004454.2:p.Arg87= | |
NM_004463.3:c.261G>A MANE Select | NP_004454.2:p.Arg87= |