HGVS | Genome Assembly |
---|---|
NC_000019.10:g.6713302G>A , CM000681.2:g.6713302G>A | GRCh38 |
NC_000019.9:g.6713313G>A , CM000681.1:g.6713313G>A | GRCh37 |
NC_000019.8:g.6664313G>A | NCBI36 |
NG_009557.1:g.12350C>T , LRG_27:g.12350C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695652.1:c.767C>T | ENSP00000512083.1:p.Ser256Leu | |
ENST00000695654.1:c.14C>T | ENSP00000512085.1:p.Ser5Leu | |
ENST00000695692.1:n.214C>T | ||
ENST00000245907.11:c.890C>T MANE Select | ENSP00000245907.4:p.Ser297Leu | |
ENST00000245907.10:c.890C>T | ENSP00000245907.4:p.Ser297Leu | |
ENST00000594270.5:n.14C>T | ||
ENST00000595577.1:n.394C>T | ||
ENST00000597442.5:n.140C>T | ||
NM_000064.3:c.890C>T | NP_000055.2:p.Ser297Leu | |
NM_000064.4:c.890C>T MANE Select | NP_000055.2:p.Ser297Leu |