HGVS | Genome Assembly |
---|---|
NC_000006.12:g.44313384T>C , CM000668.2:g.44313384T>C | GRCh38 |
NC_000006.11:g.44281121T>C , CM000668.1:g.44281121T>C | GRCh37 |
NC_000006.10:g.44389099T>C | NCBI36 |
NG_031952.1:g.4943A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000505802.1:c.855+5742T>C | ||
NM_001318876.2:c.946-128506T>C | NP_001305805.1:n.946-128506T>C |