HGVS | Genome Assembly |
---|---|
NC_000017.11:g.8075366C>T , CM000679.2:g.8075366C>T | GRCh38 |
NC_000017.10:g.7978684C>T , CM000679.1:g.7978684C>T | GRCh37 |
NC_000017.9:g.7919409C>T | NCBI36 |
NG_007099.1:g.17338G>A | |
NG_007099.2:g.17351G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000647874.1:c.1654+229G>A MANE Select | ENSP00000497784.1:n.1654+229G>A | |
ENST00000649809.1:c.718+229G>A | ENSP00000496845.1:n.718+229G>A | |
ENST00000319144.4:c.1654+229G>A | ENSP00000315167.4:n.1654+229G>A | |
ENST00000577351.5:n.479+809G>A | ||
NM_001139.2:c.1654+229G>A | NP_001130.1:n.1654+229G>A | |
NM_001139.3:c.1654+229G>A MANE Select | NP_001130.1:n.1654+229G>A |