HGVS | Genome Assembly |
---|---|
NC_000001.11:g.168293212A>C , CM000663.2:g.168293212A>C | GRCh38 |
NC_000001.10:g.168262450A>C , CM000663.1:g.168262450A>C | GRCh37 |
NC_000001.9:g.166529074A>C | NCBI36 |
NG_008244.1:g.17173A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000367821.8:c.537A>C MANE Select | ENSP00000356795.3:p.Arg179= | |
ENST00000367821.7:c.537A>C | ENSP00000356795.3:p.Arg179= | |
ENST00000431969.5:c.334A>C | ||
NM_005149.2:c.537A>C | NP_005140.1:p.Arg179= | |
NM_005149.3:c.537A>C MANE Select | NP_005140.1:p.Arg179= |