HGVS | Genome Assembly |
---|---|
NC_000019.10:g.6709913C>A , CM000681.2:g.6709913C>A | GRCh38 |
NC_000019.9:g.6709924C>A , CM000681.1:g.6709924C>A | GRCh37 |
NC_000019.8:g.6660924C>A | NCBI36 |
NG_009557.1:g.15739G>T , LRG_27:g.15739G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695652.1:c.1564-71G>T | ENSP00000512083.1:n.1564-71G>T | |
ENST00000695654.1:c.811-71G>T | ENSP00000512085.1:n.811-71G>T | |
ENST00000695655.1:c.592-35G>T | ENSP00000512086.1:n.592-35G>T | |
ENST00000695692.1:n.1051-71G>T | ||
ENST00000245907.11:c.1687-71G>T MANE Select | ENSP00000245907.4:n.1687-71G>T | |
ENST00000245907.10:c.1687-71G>T | ENSP00000245907.4:n.1687-71G>T | |
ENST00000600763.1:n.320-71G>T | ||
NM_000064.3:c.1687-71G>T | NP_000055.2:n.1687-71G>T | |
NM_000064.4:c.1687-71G>T MANE Select | NP_000055.2:n.1687-71G>T |