HGVS | Genome Assembly |
---|---|
NC_000006.12:g.44313379G>T , CM000668.2:g.44313379G>T | GRCh38 |
NC_000006.11:g.44281116G>T , CM000668.1:g.44281116G>T | GRCh37 |
NC_000006.10:g.44389094G>T | NCBI36 |
NG_031952.1:g.4948C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000505802.1:c.855+5737G>T | ||
NM_001318876.2:c.946-128511G>T | NP_001305805.1:n.946-128511G>T |