HGVS | Genome Assembly |
---|---|
NC_000002.12:g.27085193A>G , CM000664.2:g.27085193A>G | GRCh38 |
NC_000002.11:g.27308061A>G , CM000664.1:g.27308061A>G | GRCh37 |
NC_000002.10:g.27161565A>G | NCBI36 |
NG_012199.1:g.3451A>G | |
NG_046849.1:g.11627A>G | |
NG_012199.2:g.3451A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000380320.9:c.2609A>G MANE Select | ENSP00000369677.4:p.Gln870Arg | |
ENST00000380320.8:c.2609A>G | ENSP00000369677.4:p.Gln870Arg | |
ENST00000433140.1:c.601A>G | ||
NM_007046.3:c.2609A>G | NP_008977.1:p.Gln870Arg | |
XM_006711928.2:c.2575+185A>G | XP_006711991.1:n.2575+185A>G | |
NM_007046.4:c.2609A>G MANE Select | NP_008977.1:p.Gln870Arg |