HGVS | Genome Assembly |
---|---|
NC_000011.10:g.47337513T>C , CM000673.2:g.47337513T>C | GRCh38 |
NC_000011.9:g.47359064T>C , CM000673.1:g.47359064T>C | GRCh37 |
NC_000011.8:g.47315640T>C | NCBI36 |
NG_007667.1:g.20190A>G , LRG_386:g.20190A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000545968.6:c.2480A>G MANE Select | ENSP00000442795.1:p.Gln827Arg | |
ENST00000256993.8:c.2480A>G | ENSP00000256993.5:p.Gln827Arg | |
ENST00000399249.6:c.2480A>G | ENSP00000382193.2:p.Gln827Arg | |
ENST00000544791.1:c.2414-2A>G | ENSP00000444259.1:n.2414-2A>G | |
ENST00000545968.5:c.2480A>G | ENSP00000442795.1:p.Gln827Arg | |
NM_000256.3:c.2480A>G , LRG_386t1:c.2480A>G MANE Select | NP_000247.2:p.Gln827Arg | |
XM_011520117.1:c.2462A>G | XP_011518419.1:p.Gln821Arg | |
XM_011520118.1:c.2399A>G | XP_011518420.1:p.Gln800Arg |