HGVS | Genome Assembly |
---|---|
NC_000005.10:g.128300885T>C , CM000667.2:g.128300885T>C | GRCh38 |
NC_000005.9:g.127636577T>C , CM000667.1:g.127636577T>C | GRCh37 |
NC_000005.8:g.127664476T>C | NCBI36 |
NG_008750.1:g.242159A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000703783.1:n.2882A>G | ||
ENST00000703785.1:n.2801A>G | ||
ENST00000262464.9:c.6098A>G MANE Select | ENSP00000262464.4:p.Gln2033Arg | |
ENST00000262464.8:c.6098A>G | ENSP00000262464.4:p.Gln2033Arg | |
ENST00000508053.5:c.6098A>G | ENSP00000424571.1:p.Gln2033Arg | |
ENST00000619499.4:c.6095A>G | ENSP00000482132.1:p.Gln2032Arg | |
NM_001999.3:c.6098A>G | NP_001990.2:p.Gln2033Arg | |
XM_017009228.2:c.5945A>G | XP_016864717.1:p.Gln1982Arg | |
NM_001999.4:c.6098A>G MANE Select | NP_001990.2:p.Gln2033Arg |