HGVS | Genome Assembly |
---|---|
NC_000010.11:g.133532173C>T , CM000672.2:g.133532173C>T | GRCh38 |
NC_000010.10:g.135345677C>T , CM000672.1:g.135345677C>T | GRCh37 |
NC_000010.9:g.135195667C>T | NCBI36 |
NG_008383.1:g.9811C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000252945.8:c.537C>T MANE Select | ENSP00000252945.3:p.Val179= | |
ENST00000252945.7:c.537C>T | ENSP00000252945.3:p.Val179= | |
ENST00000368520.1:n.598C>T | ||
ENST00000418356.1:c.126C>T | ENSP00000397299.1:p.Val42= | |
ENST00000421586.5:c.276C>T | ENSP00000412754.1:p.Val92= | |
ENST00000463117.6:c.537C>T | ENSP00000440689.1:p.Val179= | |
ENST00000477500.5:n.448+439C>T | ||
ENST00000541080.5:c.226+439C>T | ||
NM_000773.3:c.537C>T | NP_000764.1:p.Val179= | |
NM_000773.4:c.537C>T MANE Select | NP_000764.1:p.Val179= |