HGVS | Genome Assembly |
---|---|
NC_000019.10:g.6685164G>T , CM000681.2:g.6685164G>T | GRCh38 |
NC_000019.9:g.6685175G>T , CM000681.1:g.6685175G>T | GRCh37 |
NC_000019.8:g.6636175G>T | NCBI36 |
NG_009557.1:g.40488C>A , LRG_27:g.40488C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695651.1:n.2159-18C>A | ||
ENST00000695653.1:c.1720-18C>A | ENSP00000512084.1:n.1720-18C>A | |
ENST00000695654.1:c.2836-18C>A | ENSP00000512085.1:n.2836-18C>A | |
ENST00000245907.11:c.3811-18C>A MANE Select | ENSP00000245907.4:n.3811-18C>A | |
ENST00000245907.10:c.3811-18C>A | ENSP00000245907.4:n.3811-18C>A | |
ENST00000596238.1:n.254-18C>A | ||
ENST00000601008.1:c.241+1582C>A | ENSP00000471384.1:n.241+1582C>A | |
NM_000064.3:c.3811-18C>A | NP_000055.2:n.3811-18C>A | |
NM_000064.4:c.3811-18C>A MANE Select | NP_000055.2:n.3811-18C>A |