HGVS | Genome Assembly |
---|---|
NC_000007.14:g.152675624A= , CM000669.2:g.152675624A= | GRCh38 |
NC_000007.13:g.152372709A= , CM000669.1:g.152372709A= | GRCh37 |
NC_000007.12:g.152003642A= | NCBI36 |
NG_027988.1:g.5542T= | |
NG_027988.2:g.5542T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000698506.1:c.-48+417T= | ENSP00000513758.1:n.-48+417T= | |
ENST00000698507.1:n.107+417T= | ||
ENST00000359321.2:c.39+417T= MANE Select | ENSP00000352271.1:n.39+417T= | |
ENST00000359321.1:c.39+417T= | ENSP00000352271.1:n.39+417T= | |
NM_005431.1:c.39+417T= | NP_005422.1:n.39+417T= | |
NM_005431.2:c.39+417T= MANE Select | NP_005422.1:n.39+417T= |