HGVS | Genome Assembly |
---|---|
NC_000013.11:g.102844409C>G , CM000675.2:g.102844409C>G | GRCh38 |
NC_000013.10:g.103496759C>G , CM000675.1:g.103496759C>G | GRCh37 |
NC_000013.9:g.102294760C>G | NCBI36 |
NG_007146.1:g.3586C>G , LRG_464:g.3586C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000638434.1:c.363-9348C>G | ||
ENST00000639118.1:c.363-4709C>G | ||
ENST00000639132.1:c.763+4606C>G | ENSP00000492684.1:n.763+4606C>G | |
ENST00000639435.1:c.1450+4606C>G | ENSP00000491742.1:n.1450+4606C>G | |
ENST00000602836.1:c.1364+4606C>G | ||
NM_001204425.1:c.1450+4606C>G | NP_001191354.1:n.1450+4606C>G | |
NM_001204425.2:c.1450+4606C>G | NP_001191354.2:n.1450+4606C>G |