HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94762740C>T , CM000672.2:g.94762740C>T | GRCh38 |
NC_000010.10:g.96522497C>T , CM000672.1:g.96522497C>T | GRCh37 |
NC_000010.9:g.96512487C>T | NCBI36 |
NG_008384.2:g.5035C>T | |
NG_008384.3:g.5060C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000371321.9:c.35C>T MANE Select | ENSP00000360372.3:p.Ser12Leu | |
ENST00000371321.7:c.35C>T | ENSP00000360372.3:p.Ser12Leu | |
ENST00000464755.1:c.932-12318C>T | ENSP00000483243.1:n.932-12318C>T | |
ENST00000480405.2:c.35C>T | ENSP00000483847.1:p.Ser12Leu | |
NM_000769.2:c.35C>T | NP_000760.1:p.Ser12Leu | |
NM_000769.4:c.35C>T MANE Select | NP_000760.1:p.Ser12Leu |