HGVS | Genome Assembly |
---|---|
NC_000001.11:g.220878506T>C , CM000663.2:g.220878506T>C | GRCh38 |
NC_000001.10:g.221051848T>C , CM000663.1:g.221051848T>C | GRCh37 |
NC_000001.9:g.219118471T>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000651706.1:c.843-2688T>C | ENSP00000499157.1:n.843-2688T>C | |
NR_046901.1:n.292+1343A>G | ||
XM_011510307.1:c.553A>G | XP_011508609.1:p.Asn185Asp |