HGVS | Genome Assembly |
---|---|
NC_000016.10:g.88719847A>G , CM000678.2:g.88719847A>G | GRCh38 |
NC_000016.9:g.88786255A>G , CM000678.1:g.88786255A>G | GRCh37 |
NC_000016.8:g.87313756A>G | NCBI36 |
NG_042229.1:g.70374T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301015.14:c.6278T>C MANE Select | ENSP00000301015.9:p.Phe2093Ser | |
ENST00000466823.3:c.304T>C | ||
ENST00000301015.13:c.6278T>C | ENSP00000301015.9:p.Phe2093Ser | |
ENST00000419505.5:c.44T>C | ENSP00000406358.1:p.Phe15Ser | |
ENST00000466823.2:c.304T>C | ||
ENST00000495568.7:n.519T>C | ||
ENST00000497793.2:n.433T>C | ||
NM_001142864.2:c.6278T>C | NP_001136336.2:p.Phe2093Ser | |
NM_001142864.3:c.6278T>C | NP_001136336.2:p.Phe2093Ser | |
NM_001142864.4:c.6278T>C MANE Select | NP_001136336.2:p.Phe2093Ser |