HGVS | Genome Assembly |
---|---|
NC_000019.10:g.6713301C>A , CM000681.2:g.6713301C>A | GRCh38 |
NC_000019.9:g.6713312C>A , CM000681.1:g.6713312C>A | GRCh37 |
NC_000019.8:g.6664312C>A | NCBI36 |
NG_009557.1:g.12351G>T , LRG_27:g.12351G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695652.1:c.768G>T | ENSP00000512083.1:p.Ser256= | |
ENST00000695654.1:c.15G>T | ENSP00000512085.1:p.Ser5= | |
ENST00000695692.1:n.215G>T | ||
ENST00000245907.11:c.891G>T MANE Select | ENSP00000245907.4:p.Ser297= | |
ENST00000245907.10:c.891G>T | ENSP00000245907.4:p.Ser297= | |
ENST00000594270.5:n.15G>T | ||
ENST00000595577.1:n.395G>T | ||
ENST00000597442.5:n.141G>T | ||
NM_000064.3:c.891G>T | NP_000055.2:p.Ser297= | |
NM_000064.4:c.891G>T MANE Select | NP_000055.2:p.Ser297= |