HGVS | Genome Assembly |
---|---|
NC_000005.10:g.128300883T>A , CM000667.2:g.128300883T>A | GRCh38 |
NC_000005.9:g.127636575T>A , CM000667.1:g.127636575T>A | GRCh37 |
NC_000005.8:g.127664474T>A | NCBI36 |
NG_008750.1:g.242161A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000703783.1:n.2884A>T | ||
ENST00000703785.1:n.2803A>T | ||
ENST00000262464.9:c.6100A>T MANE Select | ENSP00000262464.4:p.Asn2034Tyr | |
ENST00000262464.8:c.6100A>T | ENSP00000262464.4:p.Asn2034Tyr | |
ENST00000508053.5:c.6100A>T | ENSP00000424571.1:p.Asn2034Tyr | |
ENST00000619499.4:c.6097A>T | ENSP00000482132.1:p.Asn2033Tyr | |
NM_001999.3:c.6100A>T | NP_001990.2:p.Asn2034Tyr | |
XM_017009228.2:c.5947A>T | XP_016864717.1:p.Asn1983Tyr | |
NM_001999.4:c.6100A>T MANE Select | NP_001990.2:p.Asn2034Tyr |