HGVS | Genome Assembly |
---|---|
NC_000005.10:g.128300833T>A , CM000667.2:g.128300833T>A | GRCh38 |
NC_000005.9:g.127636525T>A , CM000667.1:g.127636525T>A | GRCh37 |
NC_000005.8:g.127664424T>A | NCBI36 |
NG_008750.1:g.242211A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000703783.1:n.2934A>T | ||
ENST00000703785.1:n.2853A>T | ||
ENST00000262464.9:c.6150A>T MANE Select | ENSP00000262464.4:p.Lys2050Asn | |
ENST00000262464.8:c.6150A>T | ENSP00000262464.4:p.Lys2050Asn | |
ENST00000508053.5:c.6150A>T | ENSP00000424571.1:p.Lys2050Asn | |
ENST00000619499.4:c.6147A>T | ENSP00000482132.1:p.Lys2049Asn | |
NM_001999.3:c.6150A>T | NP_001990.2:p.Lys2050Asn | |
XM_017009228.2:c.5997A>T | XP_016864717.1:p.Lys1999Asn | |
NM_001999.4:c.6150A>T MANE Select | NP_001990.2:p.Lys2050Asn |