HGVS | Genome Assembly |
---|---|
NC_000016.10:g.88719673C>T , CM000678.2:g.88719673C>T | GRCh38 |
NC_000016.9:g.88786081C>T , CM000678.1:g.88786081C>T | GRCh37 |
NC_000016.8:g.87313582C>T | NCBI36 |
NG_042229.1:g.70548G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000301015.14:c.6372G>A MANE Select | ENSP00000301015.9:p.Trp2124Ter | |
ENST00000466823.3:c.398G>A | ||
ENST00000301015.13:c.6372G>A | ENSP00000301015.9:p.Trp2124Ter | |
ENST00000419505.5:c.138G>A | ENSP00000406358.1:p.Trp46Ter | |
ENST00000466823.2:c.398G>A | ||
ENST00000495568.7:n.613G>A | ||
ENST00000497793.2:n.527G>A | ||
NM_001142864.2:c.6372G>A | NP_001136336.2:p.Trp2124Ter | |
NM_001142864.3:c.6372G>A | NP_001136336.2:p.Trp2124Ter | |
NM_001142864.4:c.6372G>A MANE Select | NP_001136336.2:p.Trp2124Ter |