HGVS | Genome Assembly |
---|---|
NC_000007.14:g.152676031C= , CM000669.2:g.152676031C= | GRCh38 |
NC_000007.13:g.152373116C= , CM000669.1:g.152373116C= | GRCh37 |
NC_000007.12:g.152004049C= | NCBI36 |
NG_027988.1:g.5135G= | |
NG_027988.2:g.5135G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000698506.1:c.-48+10G= | ENSP00000513758.1:n.-48+10G= | |
ENST00000698507.1:n.107+10G= | ||
ENST00000359321.2:c.39+10G= MANE Select | ENSP00000352271.1:n.39+10G= | |
ENST00000359321.1:c.39+10G= | ENSP00000352271.1:n.39+10G= | |
NM_005431.1:c.39+10G= | NP_005422.1:n.39+10G= | |
NM_005431.2:c.39+10G= MANE Select | NP_005422.1:n.39+10G= |