HGVS | Genome Assembly |
---|---|
NC_000005.10:g.140114694C>A , CM000667.2:g.140114694C>A | GRCh38 |
NC_000005.9:g.139494279C>A , CM000667.1:g.139494279C>A | GRCh37 |
NC_000005.8:g.139474463C>A | NCBI36 |
NG_041813.1:g.5572C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000331327.5:c.513C>A MANE Select | ENSP00000332706.3:p.Arg171= | |
ENST00000651386.1:c.513C>A | ENSP00000499133.1:p.Arg171= | |
ENST00000331327.4:c.513C>A | ENSP00000332706.3:p.Arg171= | |
NM_005859.4:c.513C>A | NP_005850.1:p.Arg171= | |
NM_005859.5:c.513C>A MANE Select | NP_005850.1:p.Arg171= |