HGVS | Genome Assembly |
---|---|
NC_000014.9:g.36663040C>T , CM000676.2:g.36663040C>T | GRCh38 |
NC_000014.8:g.37132245C>T , CM000676.1:g.37132245C>T | GRCh37 |
NC_000014.7:g.36201996C>T | NCBI36 |
NG_013357.1:g.10473C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000361487.7:c.148C>T MANE Select | ENSP00000355245.6:p.His50Tyr | |
ENST00000555639.2:c.148C>T | ENSP00000501203.1:p.His50Tyr | |
ENST00000361487.6:c.148C>T | ENSP00000355245.6:p.His50Tyr | |
ENST00000402703.6:c.148C>T | ENSP00000384817.2:p.His50Tyr | |
ENST00000554201.1:c.-414C>T | ENSP00000450434.1:n.-414C>T | |
ENST00000555639.1:n.450C>T | ||
NM_006194.3:c.148C>T | NP_006185.1:p.His50Tyr | |
NM_001372076.1:c.148C>T MANE Select | NP_001359005.1:p.His50Tyr | |
NM_006194.4:c.148C>T | NP_006185.1:p.His50Tyr |