HGVS | Genome Assembly |
---|---|
NC_000019.10:g.6685050G= , CM000681.2:g.6685050G= | GRCh38 |
NC_000019.9:g.6685061G= , CM000681.1:g.6685061G= | GRCh37 |
NC_000019.8:g.6636061G= | NCBI36 |
NG_009557.1:g.40602C= , LRG_27:g.40602C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695651.1:n.2255C= | ||
ENST00000695653.1:c.1816C= | ENSP00000512084.1:p.Arg606= | |
ENST00000695654.1:c.2932C= | ENSP00000512085.1:p.Arg978= | |
ENST00000695690.1:n.98C= | ||
ENST00000695691.1:n.98C= | ||
ENST00000245907.11:c.3907C= MANE Select | ENSP00000245907.4:p.Arg1303= | |
ENST00000245907.10:c.3907C= | ENSP00000245907.4:p.Arg1303= | |
ENST00000596238.1:n.350C= | ||
ENST00000601008.1:c.241+1696C= | ENSP00000471384.1:n.241+1696C= | |
NM_000064.3:c.3907C= | NP_000055.2:p.Arg1303= | |
NM_000064.4:c.3907C= MANE Select | NP_000055.2:p.Arg1303= |