HGVS | Genome Assembly |
---|---|
NC_000001.11:g.46399448G>A , CM000663.2:g.46399448G>A | GRCh38 |
NC_000001.10:g.46865120G>A , CM000663.1:g.46865120G>A | GRCh37 |
NC_000001.9:g.46637707G>A | NCBI36 |
NG_012195.1:g.10182G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000243167.9:c.196-2643G>A MANE Select | ENSP00000243167.8:n.196-2643G>A | |
ENST00000243167.8:c.196-2643G>A | ENSP00000243167.8:n.196-2643G>A | |
ENST00000468718.5:n.216-2643G>A | ||
ENST00000493735.5:n.174-2643G>A | ||
NM_001441.2:c.196-2643G>A | NP_001432.2:n.196-2643G>A | |
NM_001441.3:c.196-2643G>A MANE Select | NP_001432.2:n.196-2643G>A |