HGVS | Genome Assembly |
---|---|
NC_000023.11:g.139561583A>T , CM000685.2:g.139561583A>T | GRCh38 |
NC_000023.10:g.138643742A>T , CM000685.1:g.138643742A>T | GRCh37 |
NC_000023.9:g.138471408A>T | NCBI36 |
NG_007994.1:g.35848A>T , LRG_556:g.35848A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000218099.7:c.898A>T MANE Select | ENSP00000218099.2:p.Ile300Phe | |
ENST00000643157.1:n.1565A>T | ||
ENST00000218099.6:c.898A>T | ENSP00000218099.2:p.Ile300Phe | |
ENST00000394090.2:c.784A>T | ENSP00000377650.2:p.Ile262Phe | |
NM_000133.3:c.898A>T , LRG_556t1:c.898A>T | NP_000124.1:p.Ile300Phe | |
NM_001313913.1:c.784A>T | NP_001300842.1:p.Ile262Phe | |
XM_005262397.3:c.769A>T | XP_005262454.1:p.Ile257Phe | |
XM_005262397.4:c.769A>T | XP_005262454.1:p.Ile257Phe | |
NM_000133.4:c.898A>T MANE Select | NP_000124.1:p.Ile300Phe | |
NM_001313913.2:c.784A>T | NP_001300842.1:p.Ile262Phe |