HGVS | Genome Assembly |
---|---|
NC_000008.11:g.10622765T>C , CM000670.2:g.10622765T>C | GRCh38 |
NC_000008.10:g.10480275T>C , CM000670.1:g.10480275T>C | GRCh37 |
NC_000008.9:g.10517685T>C | NCBI36 |
NG_028035.1:g.37343A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000382483.4:c.437A>G MANE Select | ENSP00000371923.3:p.Lys146Arg | |
ENST00000329335.3:n.687A>G | ||
ENST00000382483.3:c.437A>G | ENSP00000371923.3:p.Lys146Arg | |
NM_178857.5:c.437A>G | NP_849188.4:p.Lys146Arg | |
NM_178857.6:c.437A>G MANE Select | NP_849188.4:p.Lys146Arg |