HGVS | Genome Assembly |
---|---|
NC_000016.10:g.16169750C>T , CM000678.2:g.16169750C>T | GRCh38 |
NC_000016.9:g.16263607C>T , CM000678.1:g.16263607C>T | GRCh37 |
NC_000016.8:g.16171108C>T | NCBI36 |
NG_007558.2:g.58722G>A | |
NG_007558.3:g.58868G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000622290.5:c.2891G>A | ENSP00000483331.2:p.Arg964Gln | |
ENST00000205557.12:c.2891G>A MANE Select | ENSP00000205557.7:p.Arg964Gln | |
ENST00000205557.11:c.2891G>A | ENSP00000205557.7:p.Arg964Gln | |
ENST00000456970.6:c.2716G>A | ENSP00000405002.2:n.2716G>A | |
ENST00000622290.4:c.*100G>A | ENSP00000483331.1:n.*100G>A | |
NM_001171.5:c.2891G>A | NP_001162.4:p.Arg964Gln | |
XM_011522479.1:c.2858G>A | XP_011520781.1:p.Arg953Gln | |
XM_011522480.1:c.2549G>A | XP_011520782.1:p.Arg850Gln | |
XM_011522481.1:c.2549G>A | XP_011520783.1:p.Arg850Gln | |
XR_932836.1:n.3126G>A | ||
XR_932837.1:n.3127G>A | ||
XR_932838.1:n.3127G>A | ||
NM_001351800.1:c.2549G>A | NP_001338729.1:p.Arg850Gln | |
NR_147784.1:n.2753G>A | ||
XM_011522479.2:c.2858G>A | XP_011520781.1:p.Arg953Gln | |
XM_011522481.3:c.2549G>A | XP_011520783.1:p.Arg850Gln | |
XM_017023212.1:c.2723G>A | XP_016878701.1:p.Arg908Gln | |
XM_017023214.1:c.2891G>A | XP_016878703.1:p.Arg964Gln | |
XM_024450261.1:c.2927G>A | XP_024306029.1:p.Arg976Gln | |
XR_932836.2:n.3072G>A | ||
XR_932837.3:n.3072G>A | ||
XR_932838.3:n.3072G>A | ||
NM_001171.6:c.2891G>A MANE Select | NP_001162.5:p.Arg964Gln |