HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94781866C>T , CM000672.2:g.94781866C>T | GRCh38 |
NC_000010.10:g.96541623C>T , CM000672.1:g.96541623C>T | GRCh37 |
NC_000010.9:g.96531613C>T | NCBI36 |
NG_008384.2:g.24161C>T | |
NG_008384.3:g.24186C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000371321.9:c.688C>T MANE Select | ENSP00000360372.3:p.His230Tyr | |
ENST00000645461.1:n.1741C>T | ||
ENST00000371321.7:c.688C>T | ENSP00000360372.3:p.His230Tyr | |
ENST00000464755.1:c.1451C>T | ENSP00000483243.1:n.1451C>T | |
NM_000769.2:c.688C>T | NP_000760.1:p.His230Tyr | |
NM_000769.4:c.688C>T MANE Select | NP_000760.1:p.His230Tyr |