HGVS | Genome Assembly |
---|---|
NC_000001.11:g.55063545G>C , CM000663.2:g.55063545G>C | GRCh38 |
NC_000001.10:g.55529218G>C , CM000663.1:g.55529218G>C | GRCh37 |
NC_000001.9:g.55301806G>C | NCBI36 |
NG_009061.1:g.28999G>C , LRG_275:g.28999G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000673913.2:c.*380G>C | ENSP00000501161.2:n.*380G>C | |
ENST00000710286.1:c.2397G>C | ENSP00000518176.1:p.Arg799= | |
ENST00000673903.1:c.1665G>C | ENSP00000501257.1:p.Arg555= | |
ENST00000302118.5:c.2040G>C MANE Select | ENSP00000303208.5:p.Arg680= | |
ENST00000490692.1:n.2586G>C | ||
NM_174936.3:c.2040G>C , LRG_275t1:c.2040G>C | NP_777596.2:p.Arg680= | |
NR_110451.1:n.1647G>C | ||
XM_011541193.1:c.1161G>C | XP_011539495.1:p.Arg387= | |
NM_174936.4:c.2040G>C MANE Select | NP_777596.2:p.Arg680= | |
NR_110451.2:n.1647G>C |