HGVS | Genome Assembly |
---|---|
NC_000020.11:g.56249284T>C , CM000682.2:g.56249284T>C | GRCh38 |
NC_000020.10:g.54824340T>C , CM000682.1:g.54824340T>C | GRCh37 |
NC_000020.9:g.54257747T>C | NCBI36 |
NG_012200.1:g.5553T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000243911.2:c.441T>C MANE Select | ENSP00000243911.2:p.Phe147= | |
NM_019888.3:c.441T>C MANE Select | NP_063941.3:p.Phe147= |