HGVS | Genome Assembly |
---|---|
NC_000023.11:g.38411892T>G , CM000685.2:g.38411892T>G | GRCh38 |
NC_000023.10:g.38271145T>G , CM000685.1:g.38271145T>G | GRCh37 |
NC_000023.9:g.38156089T>G | NCBI36 |
NG_008471.1:g.64410T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000039007.5:c.898T>G MANE Select | ENSP00000039007.4:p.Phe300Val | |
ENST00000643344.1:c.*648T>G | ENSP00000496606.1:n.*648T>G | |
ENST00000039007.4:c.898T>G | ENSP00000039007.4:p.Phe300Val | |
ENST00000465127.1:c.172-254229T>G | ENSP00000417050.1:n.172-254229T>G | |
NM_000531.5:c.898T>G | NP_000522.3:p.Phe300Val | |
NM_000531.6:c.898T>G MANE Select | NP_000522.3:p.Phe300Val |