HGVS | Genome Assembly |
---|---|
NC_000023.11:g.21845358C>T , CM000685.2:g.21845358C>T | GRCh38 |
NC_000023.10:g.21863476C>T , CM000685.1:g.21863476C>T | GRCh37 |
NC_000023.9:g.21773397C>T | NCBI36 |
NG_012797.1:g.10821C>T | |
NG_012797.2:g.10821C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000379484.10:c.412C>T MANE Select | ENSP00000368798.5:p.His138Tyr | |
ENST00000365779.2:c.412C>T | ENSP00000368796.1:p.His138Tyr | |
ENST00000379484.9:c.412C>T | ENSP00000368798.5:p.His138Tyr | |
ENST00000465888.1:n.511C>T | ||
NM_015884.3:c.412C>T | NP_056968.1:p.His138Tyr | |
NM_015884.4:c.412C>T MANE Select | NP_056968.1:p.His138Tyr |