HGVS | Genome Assembly |
---|---|
NC_000019.10:g.6713243C>A , CM000681.2:g.6713243C>A | GRCh38 |
NC_000019.9:g.6713254C>A , CM000681.1:g.6713254C>A | GRCh37 |
NC_000019.8:g.6664254C>A | NCBI36 |
NG_009557.1:g.12409G>T , LRG_27:g.12409G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695652.1:c.826G>T | ENSP00000512083.1:p.Glu276Ter | |
ENST00000695654.1:c.73G>T | ENSP00000512085.1:p.Glu25Ter | |
ENST00000695692.1:n.273G>T | ||
ENST00000245907.11:c.949G>T MANE Select | ENSP00000245907.4:p.Glu317Ter | |
ENST00000245907.10:c.949G>T | ENSP00000245907.4:p.Glu317Ter | |
ENST00000594270.5:n.73G>T | ||
ENST00000595577.1:n.453G>T | ||
ENST00000597442.5:n.199G>T | ||
NM_000064.3:c.949G>T | NP_000055.2:p.Glu317Ter | |
NM_000064.4:c.949G>T MANE Select | NP_000055.2:p.Glu317Ter |