HGVS | Genome Assembly |
---|---|
NC_000013.11:g.48459730G>A , CM000675.2:g.48459730G>A | GRCh38 |
NC_000013.10:g.49033866G>A , CM000675.1:g.49033866G>A | GRCh37 |
NC_000013.9:g.47931867G>A | NCBI36 |
NG_009009.1:g.160984G>A , LRG_517:g.160984G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000267163.6:c.2003G>A MANE Select | ENSP00000267163.4:p.Arg668His | |
ENST00000643064.1:c.194+78287G>A | ||
ENST00000650461.1:c.2003G>A | ENSP00000497193.1:p.Arg668His | |
ENST00000267163.4:c.2003G>A | ENSP00000267163.4:p.Arg668His | |
NM_000321.2:c.2003G>A , LRG_517t1:c.2003G>A | NP_000312.2:p.Arg668His | |
XM_011535171.1:c.1742G>A | XP_011533473.1:p.Arg581His | |
XM_011535171.2:c.1742G>A | XP_011533473.1:p.Arg581His | |
NM_000321.3:c.2003G>A MANE Select | NP_000312.2:p.Arg668His |