HGVS | Genome Assembly |
---|---|
NC_000012.12:g.52520153C>G , CM000674.2:g.52520153C>G | GRCh38 |
NC_000012.11:g.52913937C>G , CM000674.1:g.52913937C>G | GRCh37 |
NC_000012.10:g.51200204C>G | NCBI36 |
NG_008297.1:g.5307G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252242.9:c.144G>C MANE Select | ENSP00000252242.4:p.Arg48Ser | |
ENST00000252242.8:c.144G>C | ENSP00000252242.4:p.Arg48Ser | |
ENST00000546577.1:c.144G>C | ENSP00000449651.1:p.Arg48Ser | |
ENST00000549420.1:c.43+101G>C | ENSP00000447209.1:n.43+101G>C | |
ENST00000551275.1:c.144G>C | ENSP00000448041.1:p.Arg48Ser | |
ENST00000552629.5:n.242G>C | ||
NM_000424.3:c.144G>C | NP_000415.2:p.Arg48Ser | |
NM_000424.4:c.144G>C MANE Select | NP_000415.2:p.Arg48Ser |