HGVS | Genome Assembly |
---|---|
NC_000012.12:g.121846910G>T , CM000674.2:g.121846910G>T | GRCh38 |
NC_000012.11:g.122284816G>T , CM000674.1:g.122284816G>T | GRCh37 |
NC_000012.10:g.120769199G>T | NCBI36 |
NG_016461.1:g.46702C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000289004.8:c.783C>A MANE Select | ENSP00000289004.4:p.Gly261= | |
ENST00000543163.5:c.666C>A | ENSP00000441677.1:p.Gly222= | |
NM_001171993.1:c.666C>A | NP_001165464.1:p.Gly222= | |
NM_002150.2:c.783C>A | NP_002141.1:p.Gly261= | |
NM_002150.3:c.783C>A MANE Select | NP_002141.2:p.Gly261= | |
NM_001171993.2:c.666C>A | NP_001165464.1:p.Gly222= |