HGVS | Genome Assembly |
---|---|
NC_000004.12:g.88008249C>G , CM000666.2:g.88008249C>G | GRCh38 |
NC_000004.11:g.88929401C>G , CM000666.1:g.88929401C>G | GRCh37 |
NC_000004.10:g.89148425C>G | NCBI36 |
NG_008604.1:g.5582C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000237596.7:c.516C>G MANE Select | ENSP00000237596.2:p.Asp172Glu | |
ENST00000237596.6:c.516C>G | ENSP00000237596.2:p.Asp172Glu | |
ENST00000506727.1:n.18C>G | ||
NM_000297.3:c.516C>G | NP_000288.1:p.Asp172Glu | |
XM_011532028.1:c.516C>G | XP_011530330.1:p.Asp172Glu | |
XR_244632.2:n.611C>G | ||
NR_156488.1:n.603C>G | ||
XM_011532028.2:c.516C>G | XP_011530330.1:p.Asp172Glu | |
NM_000297.4:c.516C>G MANE Select | NP_000288.1:p.Asp172Glu | |
NR_156488.2:n.615C>G |