HGVS | Genome Assembly |
---|---|
NC_000008.11:g.37965792C>G , CM000670.2:g.37965792C>G | GRCh38 |
NC_000008.10:g.37823310C>G , CM000670.1:g.37823310C>G | GRCh37 |
NC_000008.9:g.37942467C>G | NCBI36 |
NG_011936.1:g.5875G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000345060.5:c.678G>C MANE Select | ENSP00000343782.3:p.Arg226= | |
ENST00000520341.2:n.806G>C | ||
ENST00000647937.1:c.162G>C | ENSP00000497740.1:p.Arg54= | |
ENST00000345060.4:c.678G>C | ENSP00000343782.3:p.Arg226= | |
ENST00000614635.1:c.678G>C | ENSP00000480325.1:p.Arg226= | |
NM_000025.2:c.678G>C | NP_000016.1:p.Arg226= | |
NM_000025.3:c.678G>C MANE Select | NP_000016.1:p.Arg226= |