HGVS | Genome Assembly |
---|---|
NC_000003.12:g.126510715T>C , CM000665.2:g.126510715T>C | GRCh38 |
NC_000003.11:g.126229558T>C , CM000665.1:g.126229558T>C | GRCh37 |
NC_000003.10:g.127712248T>C | NCBI36 |
NG_016286.1:g.12037A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000290868.7:c.206A>G MANE Select | ENSP00000290868.2:p.Gln69Arg | |
ENST00000290868.6:c.206A>G | ENSP00000290868.2:p.Gln69Arg | |
ENST00000383579.3:c.206A>G | ENSP00000373073.3:p.Gln69Arg | |
NM_001165974.1:c.206A>G | NP_001159446.1:p.Gln69Arg | |
NM_144639.2:c.206A>G | NP_653240.1:p.Gln69Arg | |
NM_144639.3:c.206A>G MANE Select | NP_653240.1:p.Gln69Arg | |
NM_001165974.2:c.206A>G | NP_001159446.1:p.Gln69Arg |