HGVS | Genome Assembly |
---|---|
NC_000002.12:g.232523835A>G , CM000664.2:g.232523835A>G | GRCh38 |
NC_000002.11:g.233388545A>G , CM000664.1:g.233388545A>G | GRCh37 |
NC_000002.10:g.233096789A>G | NCBI36 |
NG_008028.1:g.2624A>G | |
NG_031969.1:g.8373A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000617714.2:c.1076A>G MANE Select | ENSP00000479745.1:p.Gln359Arg | |
ENST00000449534.6:c.1079A>G | ENSP00000473410.1:p.Gln360Arg | |
ENST00000617714.1:c.1076A>G | ENSP00000479745.1:p.Gln359Arg | |
NM_001195129.1:c.1076A>G | NP_001182058.1:p.Gln359Arg | |
NM_001195129.2:c.1076A>G MANE Select | NP_001182058.1:p.Gln359Arg | |
NM_001369848.1:c.1079A>G | NP_001356777.1:p.Gln360Arg |