HGVS | Genome Assembly |
---|---|
NC_000007.14:g.88970471T>A , CM000669.2:g.88970471T>A | GRCh38 |
NC_000007.13:g.88599785T>A , CM000669.1:g.88599785T>A | GRCh37 |
NC_000007.12:g.88437721T>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000333190.5:c.108+210387T>A MANE Select | ENSP00000329638.4:n.108+210387T>A | |
ENST00000333190.4:c.108+210387T>A | ENSP00000329638.4:n.108+210387T>A | |
NM_181646.3:c.108+210387T>A | NP_857597.1:n.108+210387T>A | |
NM_181646.4:c.108+210387T>A | NP_857597.1:n.108+210387T>A | |
NM_181646.5:c.108+210387T>A MANE Select | NP_857597.1:n.108+210387T>A |