HGVS | Genome Assembly |
---|---|
NC_000007.14:g.5603536C>G , CM000669.2:g.5603536C>G | GRCh38 |
NC_000007.13:g.5643167C>G , CM000669.1:g.5643167C>G | GRCh37 |
NC_000007.12:g.5609693C>G | NCBI36 |
NG_030004.1:g.15732C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000382361.8:c.1030C>G MANE Select | ENSP00000371798.3:p.Arg344Gly | |
ENST00000382361.7:c.1030C>G | ENSP00000371798.3:p.Arg344Gly | |
ENST00000405801.2:c.196C>G | ENSP00000383982.2:p.Arg66Gly | |
ENST00000444748.5:c.196C>G | ENSP00000404506.1:p.Arg66Gly | |
ENST00000447103.5:c.196C>G | ENSP00000409967.1:p.Arg66Gly | |
ENST00000473330.1:n.583C>G | ||
NM_003088.3:c.1030C>G | NP_003079.1:p.Arg344Gly | |
NM_003088.4:c.1030C>G MANE Select | NP_003079.1:p.Arg344Gly |