HGVS | Genome Assembly |
---|---|
NC_000019.10:g.6714543T>A , CM000681.2:g.6714543T>A | GRCh38 |
NC_000019.9:g.6714554T>A , CM000681.1:g.6714554T>A | GRCh37 |
NC_000019.8:g.6665554T>A | NCBI36 |
NG_009557.1:g.11109A>T , LRG_27:g.11109A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695652.1:c.382-97A>T | ENSP00000512083.1:n.382-97A>T | |
ENST00000245907.11:c.505-97A>T MANE Select | ENSP00000245907.4:n.505-97A>T | |
ENST00000245907.10:c.505-97A>T | ENSP00000245907.4:n.505-97A>T | |
NM_000064.3:c.505-97A>T | NP_000055.2:n.505-97A>T | |
NM_000064.4:c.505-97A>T MANE Select | NP_000055.2:n.505-97A>T |