HGVS | Genome Assembly |
---|---|
NC_000019.10:g.6714172C>T , CM000681.2:g.6714172C>T | GRCh38 |
NC_000019.9:g.6714183C>T , CM000681.1:g.6714183C>T | GRCh37 |
NC_000019.8:g.6665183C>T | NCBI36 |
NG_009557.1:g.11480G>A , LRG_27:g.11480G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695652.1:c.553G>A | ENSP00000512083.1:p.Glu185Lys | |
ENST00000245907.11:c.676G>A MANE Select | ENSP00000245907.4:p.Glu226Lys | |
ENST00000245907.10:c.676G>A | ENSP00000245907.4:p.Glu226Lys | |
ENST00000595577.1:n.180G>A | ||
NM_000064.3:c.676G>A | NP_000055.2:p.Glu226Lys | |
NM_000064.4:c.676G>A MANE Select | NP_000055.2:p.Glu226Lys |