HGVS | Genome Assembly |
---|---|
NC_000002.12:g.240868991G= , CM000664.2:g.240868991G= | GRCh38 |
NC_000002.11:g.241808408G= , CM000664.1:g.241808408G= | GRCh37 |
NC_000002.10:g.241457081G= | NCBI36 |
NG_008005.1:g.5247G= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000307503.4:c.126G= MANE Select | ENSP00000302620.3:p.Gly42= | |
ENST00000307503.3:c.126G= | ENSP00000302620.3:p.Gly42= | |
ENST00000472436.1:n.146G= | ||
NM_000030.2:c.126G= | NP_000021.1:p.Gly42= | |
XR_924060.1:n.405+1242C= | ||
NM_000030.3:c.126G= MANE Select | NP_000021.1:p.Gly42= |