HGVS | Genome Assembly |
---|---|
NC_000002.12:g.232523799G>A , CM000664.2:g.232523799G>A | GRCh38 |
NC_000002.11:g.233388509G>A , CM000664.1:g.233388509G>A | GRCh37 |
NC_000002.10:g.233096753G>A | NCBI36 |
NG_008028.1:g.2588G>A | |
NG_031969.1:g.8337G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000617714.2:c.1040G>A MANE Select | ENSP00000479745.1:p.Arg347Lys | |
ENST00000449534.6:c.1043G>A | ENSP00000473410.1:p.Arg348Lys | |
ENST00000617714.1:c.1040G>A | ENSP00000479745.1:p.Arg347Lys | |
NM_001195129.1:c.1040G>A | NP_001182058.1:p.Arg347Lys | |
NM_001195129.2:c.1040G>A MANE Select | NP_001182058.1:p.Arg347Lys | |
NM_001369848.1:c.1043G>A | NP_001356777.1:p.Arg348Lys |