HGVS | Genome Assembly |
---|---|
NC_000020.11:g.46010048C>T , CM000682.2:g.46010048C>T | GRCh38 |
NC_000020.10:g.44638687C>T , CM000682.1:g.44638687C>T | GRCh37 |
NC_000020.9:g.44072094C>T | NCBI36 |
NG_011468.1:g.6141C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000372330.3:c.321C>T MANE Select | ENSP00000361405.3:p.Phe107= | |
NM_004994.2:c.321C>T | NP_004985.2:p.Phe107= | |
NM_004994.3:c.321C>T MANE Select | NP_004985.2:p.Phe107= |