HGVS | Genome Assembly |
---|---|
NC_000015.10:g.43067929G>A , CM000677.2:g.43067929G>A | GRCh38 |
NC_000015.9:g.43360127G>A , CM000677.1:g.43360127G>A | GRCh37 |
NC_000015.8:g.41147419G>A | NCBI36 |
NG_012182.1:g.43160C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000290650.9:c.767C>T MANE Select | ENSP00000290650.4:p.Ala256Val | |
ENST00000290650.8:c.767C>T | ENSP00000290650.4:p.Ala256Val | |
ENST00000546274.6:c.767C>T | ENSP00000477932.1:p.Ala256Val | |
ENST00000563239.1:c.*202+2970C>T | ENSP00000456502.1:n.*202+2970C>T | |
NM_174916.2:c.767C>T | NP_777576.1:p.Ala256Val | |
NM_174916.3:c.767C>T MANE Select | NP_777576.1:p.Ala256Val |