HGVS | Genome Assembly |
---|---|
NC_000006.12:g.35823888C>A , CM000668.2:g.35823888C>A | GRCh38 |
NC_000006.11:g.35791665C>A , CM000668.1:g.35791665C>A | GRCh37 |
NC_000006.10:g.35899643C>A | NCBI36 |
NG_012184.1:g.23595C>A | |
NG_012184.2:g.23595C>A | |
NG_012184.3:g.31683C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000360215.3:c.*923C>A MANE Select | ENSP00000353346.1:n.*923C>A | |
ENST00000496656.2:n.578+4068C>A | ||
ENST00000651132.1:c.*923C>A | ENSP00000498322.1:n.*923C>A | |
ENST00000651676.1:c.*16+4425C>A | ENSP00000498699.1:n.*16+4425C>A | |
ENST00000652718.1:c.508+4425C>A | ENSP00000498866.1:n.508+4425C>A | |
ENST00000360215.2:c.*923C>A | ENSP00000353346.1:n.*923C>A | |
ENST00000496656.1:n.812+4068C>A | ||
NM_182548.3:c.*923C>A | NP_872354.1:n.*923C>A | |
NM_182548.4:c.*923C>A MANE Select | NP_872354.1:n.*923C>A |