HGVS | Genome Assembly |
---|---|
NC_000013.11:g.28355524G>T , CM000675.2:g.28355524G>T | GRCh38 |
NC_000013.10:g.28929661G>T , CM000675.1:g.28929661G>T | GRCh37 |
NC_000013.9:g.27827661G>T | NCBI36 |
NG_012003.1:g.144605C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000282397.9:c.2248+2030C>A MANE Select | ENSP00000282397.4:n.2248+2030C>A | |
ENST00000282397.8:c.2248+2030C>A | ENSP00000282397.4:n.2248+2030C>A | |
NM_002019.4:c.2248+2030C>A MANE Select | NP_002010.2:n.2248+2030C>A | |
XM_017020485.1:c.2248+2030C>A | XP_016875974.1:n.2248+2030C>A |