HGVS | Genome Assembly |
---|---|
NC_000007.14:g.107915506G>C , CM000669.2:g.107915506G>C | GRCh38 |
NC_000007.13:g.107555951G>C , CM000669.1:g.107555951G>C | GRCh37 |
NC_000007.12:g.107343187G>C | NCBI36 |
NG_008045.1:g.29366G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000205402.10:c.685G>C MANE Select | ENSP00000205402.3:p.Gly229Arg | |
ENST00000205402.9:c.685G>C | ENSP00000205402.3:p.Gly229Arg | |
ENST00000415325.5:c.*359G>C | ENSP00000402593.1:n.*359G>C | |
ENST00000417551.5:c.685G>C | ENSP00000390667.1:p.Gly229Arg | |
ENST00000437604.6:c.541G>C | ENSP00000387542.2:p.Gly181Arg | |
ENST00000440410.5:c.616G>C | ENSP00000417016.1:p.Gly206Arg | |
ENST00000451081.5:c.*428G>C | ENSP00000388077.1:n.*428G>C | |
NM_000108.4:c.685G>C | NP_000099.2:p.Gly229Arg | |
NM_001289750.1:c.388G>C | NP_001276679.1:p.Gly130Arg | |
NM_001289751.1:c.616G>C | NP_001276680.1:p.Gly206Arg | |
NM_001289752.1:c.541G>C | NP_001276681.1:p.Gly181Arg | |
NM_000108.5:c.685G>C MANE Select | NP_000099.2:p.Gly229Arg |