HGVS | Genome Assembly |
---|---|
NC_000023.11:g.38675849G>T , CM000685.2:g.38675849G>T | GRCh38 |
NC_000023.10:g.38535103G>T , CM000685.1:g.38535103G>T | GRCh37 |
NC_000023.9:g.38420047G>T | NCBI36 |
NG_009160.1:g.119373G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378482.7:c.586G>T MANE Select | ENSP00000367743.2:p.Val196Phe | |
ENST00000286824.6:c.637G>T | ENSP00000286824.6:p.Val213Phe | |
ENST00000378482.6:c.586G>T | ENSP00000367743.2:p.Val196Phe | |
ENST00000419600.3:n.530G>T | ||
ENST00000465127.1:c.676G>T | ENSP00000417050.1:p.Val226Phe | |
ENST00000471410.5:c.*612G>T | ENSP00000419290.1:n.*612G>T | |
ENST00000475216.5:c.*579G>T | ENSP00000418586.1:n.*579G>T | |
NM_004615.3:c.586G>T | NP_004606.2:p.Val196Phe | |
NM_004615.4:c.586G>T MANE Select | NP_004606.2:p.Val196Phe |