HGVS | Genome Assembly |
---|---|
NC_000019.10:g.6709899G>A , CM000681.2:g.6709899G>A | GRCh38 |
NC_000019.9:g.6709910G>A , CM000681.1:g.6709910G>A | GRCh37 |
NC_000019.8:g.6660910G>A | NCBI36 |
NG_009557.1:g.15753C>T , LRG_27:g.15753C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695652.1:c.1564-57C>T | ENSP00000512083.1:n.1564-57C>T | |
ENST00000695654.1:c.811-57C>T | ENSP00000512085.1:n.811-57C>T | |
ENST00000695655.1:c.592-21C>T | ENSP00000512086.1:n.592-21C>T | |
ENST00000695692.1:n.1051-57C>T | ||
ENST00000245907.11:c.1687-57C>T MANE Select | ENSP00000245907.4:n.1687-57C>T | |
ENST00000245907.10:c.1687-57C>T | ENSP00000245907.4:n.1687-57C>T | |
ENST00000600763.1:n.320-57C>T | ||
NM_000064.3:c.1687-57C>T | NP_000055.2:n.1687-57C>T | |
NM_000064.4:c.1687-57C>T MANE Select | NP_000055.2:n.1687-57C>T |