HGVS | Genome Assembly |
---|---|
NC_000003.12:g.81648856C>G , CM000665.2:g.81648856C>G | GRCh38 |
NC_000003.11:g.81698007C>G , CM000665.1:g.81698007C>G | GRCh37 |
NC_000003.10:g.81780697C>G | NCBI36 |
NG_011810.1:g.117945G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000429644.7:c.691G>C MANE Select | ENSP00000410833.2:p.Gly231Arg | |
ENST00000429644.6:c.691G>C | ENSP00000410833.2:p.Gly231Arg | |
ENST00000489715.1:c.568G>C | ENSP00000419638.1:p.Gly190Arg | |
ENST00000498468.1:n.219G>C | ||
NM_000158.3:c.691G>C | NP_000149.3:p.Gly231Arg | |
NM_000158.4:c.691G>C MANE Select | NP_000149.4:p.Gly231Arg |