HGVS | Genome Assembly |
---|---|
NC_000004.12:g.40354418T>G , CM000666.2:g.40354418T>G | GRCh38 |
NC_000004.11:g.40356435T>G , CM000666.1:g.40356435T>G | GRCh37 |
NC_000004.10:g.40051192T>G | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000310169.3:c.1338T>G MANE Select | ENSP00000312663.2:p.Ser446Arg | |
ENST00000310169.2:c.1338T>G | ENSP00000312663.2:p.Ser446Arg | |
NM_017581.3:c.1338T>G | NP_060051.2:p.Ser446Arg | |
NM_017581.4:c.1338T>G MANE Select | NP_060051.2:p.Ser446Arg |