HGVS | Genome Assembly |
---|---|
NC_000016.10:g.88719847A>T , CM000678.2:g.88719847A>T | GRCh38 |
NC_000016.9:g.88786255A>T , CM000678.1:g.88786255A>T | GRCh37 |
NC_000016.8:g.87313756A>T | NCBI36 |
NG_042229.1:g.70374T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301015.14:c.6278T>A MANE Select | ENSP00000301015.9:p.Phe2093Tyr | |
ENST00000466823.3:c.304T>A | ||
ENST00000301015.13:c.6278T>A | ENSP00000301015.9:p.Phe2093Tyr | |
ENST00000419505.5:c.44T>A | ENSP00000406358.1:p.Phe15Tyr | |
ENST00000466823.2:c.304T>A | ||
ENST00000495568.7:n.519T>A | ||
ENST00000497793.2:n.433T>A | ||
NM_001142864.2:c.6278T>A | NP_001136336.2:p.Phe2093Tyr | |
NM_001142864.3:c.6278T>A | NP_001136336.2:p.Phe2093Tyr | |
NM_001142864.4:c.6278T>A MANE Select | NP_001136336.2:p.Phe2093Tyr |