HGVS | Genome Assembly |
---|---|
NC_000012.12:g.102480984A>T , CM000674.2:g.102480984A>T | GRCh38 |
NC_000012.11:g.102874762A>T , CM000674.1:g.102874762A>T | GRCh37 |
NC_000012.10:g.101398892A>T | NCBI36 |
NG_011713.1:g.4617T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000644491.1:c.-19-584T>A | ENSP00000494228.1:n.-19-584T>A | |
XR_944536.1:n.84+719T>A | ||
XM_017019259.1:c.114+719T>A | XP_016874748.1:n.114+719T>A | |
XM_017019262.2:c.114+719T>A | XP_016874751.1:n.114+719T>A | |
XM_017019263.2:c.114+719T>A | XP_016874752.1:n.114+719T>A |