HGVS | Genome Assembly |
---|---|
NC_000001.11:g.16138103G>A , CM000663.2:g.16138103G>A | GRCh38 |
NC_000001.10:g.16464598G>A , CM000663.1:g.16464598G>A | GRCh37 |
NC_000001.9:g.16337185G>A | NCBI36 |
NG_021396.1:g.22985C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000358432.8:c.1062C>T MANE Select | ENSP00000351209.5:p.Ser354= | |
ENST00000358432.7:c.1062C>T | ENSP00000351209.5:p.Ser354= | |
ENST00000480202.1:n.267C>T | ||
NM_004431.3:c.1062C>T | NP_004422.2:p.Ser354= | |
NM_001329090.1:c.900C>T | NP_001316019.1:p.Ser300= | |
NM_004431.4:c.1062C>T | NP_004422.2:p.Ser354= | |
XM_017000537.1:c.1062C>T | XP_016856026.1:p.Ser354= | |
NM_004431.5:c.1062C>T MANE Select | NP_004422.2:p.Ser354= | |
NM_001329090.2:c.900C>T | NP_001316019.1:p.Ser300= |