HGVS | Genome Assembly |
---|---|
NC_000019.10:g.6714080G= , CM000681.2:g.6714080G= | GRCh38 |
NC_000019.9:g.6714091G= , CM000681.1:g.6714091G= | GRCh37 |
NC_000019.8:g.6665091G= | NCBI36 |
NG_009557.1:g.11572C= , LRG_27:g.11572C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695652.1:c.562C= | ENSP00000512083.1:p.Leu188= | |
ENST00000245907.11:c.685C= MANE Select | ENSP00000245907.4:p.Leu229= | |
ENST00000245907.10:c.685C= | ENSP00000245907.4:p.Leu229= | |
ENST00000595577.1:n.189C= | ||
NM_000064.3:c.685C= | NP_000055.2:p.Leu229= | |
NM_000064.4:c.685C= MANE Select | NP_000055.2:p.Leu229= |