HGVS | Genome Assembly |
---|---|
NC_000016.10:g.73679769A>G , CM000678.2:g.73679769A>G | GRCh38 |
NC_000016.9:g.73713668A>G , CM000678.1:g.73713668A>G | GRCh37 |
NC_000016.8:g.72271169A>G | NCBI36 |
NG_013211.2:g.217163T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000641018.1:n.572T>C | ||
ENST00000641206.2:c.-1547+411T>C | ENSP00000493252.1:n.-1547+411T>C | |
ENST00000642085.1:n.163+411T>C | ||
XR_933730.1:n.355+411T>C | ||
XM_024450275.1:c.-494+411T>C | XP_024306043.1:n.-494+411T>C | |
NM_001386735.1:c.-1064+411T>C | NP_001373664.1:n.-1064+411T>C |