HGVS | Genome Assembly |
---|---|
NC_000001.11:g.16132063C>T , CM000663.2:g.16132063C>T | GRCh38 |
NC_000001.10:g.16458558C>T , CM000663.1:g.16458558C>T | GRCh37 |
NC_000001.9:g.16331145C>T | NCBI36 |
NG_021396.1:g.29025G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000358432.8:c.2325+1G>A MANE Select | ENSP00000351209.5:n.2325+1G>A | |
ENST00000358432.7:c.2325+1G>A | ENSP00000351209.5:n.2325+1G>A | |
NM_004431.3:c.2325+1G>A | NP_004422.2:n.2325+1G>A | |
NM_001329090.1:c.2163+1G>A | NP_001316019.1:n.2163+1G>A | |
NM_004431.4:c.2325+1G>A | NP_004422.2:n.2325+1G>A | |
NM_004431.5:c.2325+1G>A MANE Select | NP_004422.2:n.2325+1G>A | |
NM_001329090.2:c.2163+1G>A | NP_001316019.1:n.2163+1G>A |