HGVS | Genome Assembly |
---|---|
NC_000002.12:g.223597813T>G , CM000664.2:g.223597813T>G | GRCh38 |
NC_000002.11:g.224462531T>G , CM000664.1:g.224462531T>G | GRCh37 |
NC_000002.10:g.224170775T>G | NCBI36 |
NG_027998.1:g.9687A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000305409.3:c.1470A>C MANE Select | ENSP00000304133.2:p.Arg490Ser | |
ENST00000305409.2:c.1470A>C | ENSP00000304133.2:p.Arg490Ser | |
NM_003469.4:c.1470A>C | NP_003460.2:p.Arg490Ser | |
NM_003469.5:c.1470A>C MANE Select | NP_003460.2:p.Arg490Ser |