HGVS | Genome Assembly |
---|---|
NC_000002.12:g.43838941G>T , CM000664.2:g.43838941G>T | GRCh38 |
NC_000002.11:g.44066080G>T , CM000664.1:g.44066080G>T | GRCh37 |
NC_000002.10:g.43919584G>T | NCBI36 |
NG_008883.1:g.4879C>A | |
NG_008884.1:g.4978G>T | |
NG_008884.2:g.12000G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000643284.1:n.521-5566G>T | ||
ENST00000644611.1:c.76-5566G>T | ENSP00000495423.1:n.76-5566G>T | |
XM_011533029.1:c.76-5566G>T | XP_011531331.1:n.76-5566G>T | |
XM_011533030.1:c.76-5566G>T | XP_011531332.1:n.76-5566G>T | |
XM_011533031.1:c.-153-5566G>T | XP_011531333.1:n.-153-5566G>T | |
XR_939707.1:n.566-5566G>T | ||
XM_011533029.2:c.76-5566G>T | XP_011531331.1:n.76-5566G>T | |
XM_011533030.2:c.76-5566G>T | XP_011531332.1:n.76-5566G>T | |
XR_001738891.1:n.580-5566G>T | ||
XR_939707.2:n.580-5566G>T |