HGVS | Genome Assembly |
---|---|
NC_000006.12:g.44313370A>C , CM000668.2:g.44313370A>C | GRCh38 |
NC_000006.11:g.44281107A>C , CM000668.1:g.44281107A>C | GRCh37 |
NC_000006.10:g.44389085A>C | NCBI36 |
NG_031952.1:g.4957T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000505802.1:c.855+5728A>C | ||
NM_001318876.2:c.946-128520A>C | NP_001305805.1:n.946-128520A>C |