HGVS | Genome Assembly |
---|---|
NC_000011.10:g.116830774A>C , CM000673.2:g.116830774A>C | GRCh38 |
NC_000011.9:g.116701490A>C , CM000673.1:g.116701490A>C | GRCh37 |
NC_000011.8:g.116206700A>C | NCBI36 |
NG_008949.1:g.5867A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000227667.8:c.57A>C MANE Select | ENSP00000227667.2:p.Arg19= | |
ENST00000227667.7:c.57A>C | ENSP00000227667.2:p.Arg19= | |
ENST00000375345.3:c.111A>C | ENSP00000364494.1:p.Arg37= | |
ENST00000433777.5:c.57A>C | ENSP00000410614.1:p.Arg19= | |
ENST00000470144.1:n.89A>C | ||
ENST00000630701.1:c.111A>C | ENSP00000486182.1:p.Arg37= | |
NM_000040.1:c.57A>C | NP_000031.1:p.Arg19= | |
NM_000040.2:c.57A>C | NP_000031.1:p.Arg19= | |
NM_000040.3:c.57A>C MANE Select | NP_000031.1:p.Arg19= |