HGVS | Genome Assembly |
---|---|
NC_000016.10:g.73679784C>T , CM000678.2:g.73679784C>T | GRCh38 |
NC_000016.9:g.73713683C>T , CM000678.1:g.73713683C>T | GRCh37 |
NC_000016.8:g.72271184C>T | NCBI36 |
NG_013211.2:g.217148G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000641018.1:n.557G>A | ||
ENST00000641206.2:c.-1547+396G>A | ENSP00000493252.1:n.-1547+396G>A | |
ENST00000642085.1:n.163+396G>A | ||
XR_933730.1:n.355+396G>A | ||
XM_024450275.1:c.-494+396G>A | XP_024306043.1:n.-494+396G>A | |
NM_001386735.1:c.-1064+396G>A | NP_001373664.1:n.-1064+396G>A |