HGVS | Genome Assembly |
---|---|
NC_000006.12:g.131572419G>T , CM000668.2:g.131572419G>T | GRCh38 |
NC_000006.11:g.131893559G>T , CM000668.1:g.131893559G>T | GRCh37 |
NC_000006.10:g.131935252G>T | NCBI36 |
NG_007086.2:g.4195G>T | |
NG_031860.1:g.60805C>A | |
NG_031860.2:g.60805C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000672052.1:n.305-4244G>T | ||
ENST00000672233.1:c.77-6692G>T | ENSP00000499826.1:n.77-6692G>T | |
ENST00000673234.1:c.77-4244G>T | ENSP00000499885.1:n.77-4244G>T |