HGVS | Genome Assembly |
---|---|
NC_000001.11:g.119753306A>T , CM000663.2:g.119753306A>T | GRCh38 |
NC_000001.10:g.120295929A>T , CM000663.1:g.120295929A>T | GRCh37 |
NC_000001.9:g.120097452A>T | NCBI36 |
NG_013348.1:g.20627T>A , LRG_447:g.20627T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000369406.8:c.1268T>A MANE Select | ENSP00000358414.3:p.Phe423Tyr | |
ENST00000369406.7:c.1268T>A | ENSP00000358414.3:p.Phe423Tyr | |
ENST00000544913.2:c.1142T>A | ENSP00000439495.2:p.Phe381Tyr | |
NM_001166107.1:c.1142T>A , LRG_447t2:c.1142T>A | NP_001159579.1:p.Phe381Tyr | |
NM_005518.3:c.1268T>A , LRG_447t1:c.1268T>A | NP_005509.1:p.Phe423Tyr | |
XM_011541313.1:c.1103T>A | XP_011539615.1:p.Phe368Tyr | |
XM_011541313.2:c.1103T>A | XP_011539615.1:p.Phe368Tyr | |
NM_005518.4:c.1268T>A MANE Select | NP_005509.1:p.Phe423Tyr |