HGVS | Genome Assembly |
---|---|
NC_000002.12:g.102384942C>T , CM000664.2:g.102384942C>T | GRCh38 |
NC_000002.11:g.103001402C>T , CM000664.1:g.103001402C>T | GRCh37 |
NC_000002.10:g.102367834C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000233957.7:c.753C>T MANE Select | ENSP00000233957.1:p.Phe251= | |
ENST00000677287.1:c.810C>T | ENSP00000503023.1:n.810C>T | |
ENST00000233957.5:c.753C>T | ENSP00000233957.1:p.Phe251= | |
ENST00000409599.5:c.753C>T | ENSP00000387211.1:p.Phe251= | |
ENST00000410040.5:c.753C>T | ENSP00000386663.1:p.Phe251= | |
NM_001282399.1:c.288C>T | NP_001269328.1:p.Phe96= | |
NM_003855.3:c.753C>T | NP_003846.1:p.Phe251= | |
XM_005264039.3:c.753C>T | XP_005264096.1:p.Phe251= | |
XM_005264040.3:c.753C>T | XP_005264097.1:p.Phe251= | |
XM_006712823.2:c.288C>T | XP_006712886.1:p.Phe96= | |
XM_011512099.1:c.753C>T | XP_011510401.1:p.Phe251= | |
XR_923054.1:n.781C>T | ||
XM_017005181.2:c.288C>T | XP_016860670.1:p.Phe96= | |
XM_017005182.1:c.6C>T | XP_016860671.1:p.Phe2= | |
XM_017005183.1:c.6C>T | XP_016860672.1:p.Phe2= | |
XM_017005184.1:c.6C>T | XP_016860673.1:p.Phe2= | |
XM_024453202.1:c.753C>T | XP_024308970.1:p.Phe251= | |
XM_024453203.1:c.753C>T | XP_024308971.1:p.Phe251= | |
XM_024453204.1:c.753C>T | XP_024308972.1:p.Phe251= | |
XM_024453205.1:c.753C>T | XP_024308973.1:p.Phe251= | |
XR_923054.3:n.1370C>T | ||
NM_001282399.2:c.288C>T | NP_001269328.1:p.Phe96= | |
NM_001371418.1:c.753C>T | NP_001358347.1:p.Phe251= | |
NM_001371419.1:c.753C>T | NP_001358348.1:p.Phe251= | |
NM_001371420.1:c.753C>T | NP_001358349.1:p.Phe251= | |
NM_001371421.1:c.288C>T | NP_001358350.1:p.Phe96= | |
NM_001371422.1:c.6C>T | NP_001358351.1:p.Phe2= | |
NM_001371423.1:c.6C>T | NP_001358352.1:p.Phe2= | |
NM_001371424.1:c.6C>T | NP_001358353.1:p.Phe2= | |
NM_003855.5:c.753C>T MANE Select | NP_003846.1:p.Phe251= |