HGVS | Genome Assembly |
---|---|
NC_000001.11:g.1014227A>C , CM000663.2:g.1014227A>C | GRCh38 |
NC_000001.10:g.949607A>C , CM000663.1:g.949607A>C | GRCh37 |
NC_000001.9:g.939470A>C | NCBI36 |
NG_033033.1:g.5761A>C | |
NG_033033.2:g.18090A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000624697.4:c.223A>C | ENSP00000485643.1:p.Ser75Arg | |
ENST00000649529.1:c.247A>C MANE Select | ENSP00000496832.1:p.Ser83Arg | |
ENST00000379389.4:c.247A>C | ENSP00000368699.4:p.Ser83Arg | |
ENST00000624652.1:c.223A>C | ENSP00000485313.1:p.Ser75Arg | |
ENST00000624697.3:c.223A>C | ENSP00000485643.1:p.Ser75Arg | |
NM_005101.3:c.247A>C | NP_005092.1:p.Ser83Arg | |
NM_005101.4:c.247A>C MANE Select | NP_005092.1:p.Ser83Arg |