HGVS | Genome Assembly |
---|---|
NC_000017.11:g.42544231C>T , CM000679.2:g.42544231C>T | GRCh38 |
NC_000017.10:g.40696249C>T , CM000679.1:g.40696249C>T | GRCh37 |
NC_000017.9:g.37949775C>T | NCBI36 |
NG_011552.1:g.13299C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000225927.7:c.2225C>T MANE Select | ENSP00000225927.1:p.Ser742Phe | |
ENST00000225927.6:c.2225C>T | ENSP00000225927.1:p.Ser742Phe | |
NM_000263.3:c.2225C>T | NP_000254.2:p.Ser742Phe | |
XM_006721920.2:c.1394C>T | XP_006721983.1:p.Ser465Phe | |
XM_011524840.1:c.1226C>T | XP_011523142.1:p.Ser409Phe | |
XM_017024687.1:c.1394C>T | XP_016880176.1:p.Ser465Phe | |
XM_024450771.1:c.2282C>T | XP_024306539.1:p.Ser761Phe | |
XM_024450772.1:c.1226C>T | XP_024306540.1:p.Ser409Phe | |
NM_000263.4:c.2225C>T MANE Select | NP_000254.2:p.Ser742Phe |