HGVS | Genome Assembly |
---|---|
NC_000011.10:g.47333565T>C , CM000673.2:g.47333565T>C | GRCh38 |
NC_000011.9:g.47355116T>C , CM000673.1:g.47355116T>C | GRCh37 |
NC_000011.8:g.47311692T>C | NCBI36 |
NG_007667.1:g.24138A>G , LRG_386:g.24138A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000545968.6:c.3182A>G MANE Select | ENSP00000442795.1:p.Gln1061Arg | |
ENST00000256993.8:c.3182A>G | ENSP00000256993.5:p.Gln1061Arg | |
ENST00000399249.6:c.3182A>G | ENSP00000382193.2:p.Gln1061Arg | |
ENST00000545968.5:c.3182A>G | ENSP00000442795.1:p.Gln1061Arg | |
NM_000256.3:c.3182A>G , LRG_386t1:c.3182A>G MANE Select | NP_000247.2:p.Gln1061Arg | |
XM_011520117.1:c.3164A>G | XP_011518419.1:p.Gln1055Arg | |
XM_011520118.1:c.3101A>G | XP_011518420.1:p.Gln1034Arg |