HGVS | Genome Assembly |
---|---|
NC_000005.10:g.148827602A>C , CM000667.2:g.148827602A>C | GRCh38 |
NC_000005.9:g.148207165A>C , CM000667.1:g.148207165A>C | GRCh37 |
NC_000005.8:g.148187358A>C | NCBI36 |
NG_016421.1:g.6010A>C | |
NG_016421.2:g.6010A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000305988.6:c.771A>C MANE Select | ENSP00000305372.4:p.Gly257= | |
ENST00000305988.5:c.771A>C | ENSP00000305372.4:p.Gly257= | |
NM_000024.5:c.771A>C | NP_000015.1:p.Gly257= | |
NM_000024.6:c.771A>C MANE Select | NP_000015.2:p.Gly257= |