HGVS | Genome Assembly |
---|---|
NC_000016.10:g.56975032C>A , CM000678.2:g.56975032C>A | GRCh38 |
NC_000016.9:g.57008944C>A , CM000678.1:g.57008944C>A | GRCh37 |
NC_000016.8:g.55566445C>A | NCBI36 |
NG_008952.1:g.18110C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000200676.8:c.931-69C>A MANE Select | ENSP00000200676.3:n.931-69C>A | |
ENST00000200676.7:c.931-69C>A | ENSP00000200676.3:n.931-69C>A | |
ENST00000379780.6:c.751-69C>A | ENSP00000369106.2:n.751-69C>A | |
ENST00000566128.1:c.736-69C>A | ENSP00000456276.1:n.736-69C>A | |
NM_000078.2:c.931-69C>A | NP_000069.2:n.931-69C>A | |
NM_001286085.1:c.751-69C>A | NP_001273014.1:n.751-69C>A | |
NM_000078.3:c.931-69C>A MANE Select | NP_000069.2:n.931-69C>A | |
NM_001286085.2:c.751-69C>A | NP_001273014.1:n.751-69C>A |