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Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.40819424C>T , CM000663.2:g.40819424C>T
GRCh38
NC_000001.10:g.41285096C>T , CM000663.1:g.41285096C>T
GRCh37
NC_000001.9:g.41057683C>T
NCBI36
NG_008139.1:g.40413C>T
NG_008139.2:g.40413C>T
NG_008139.3:g.40638C>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000347132.10:c.786C>T
MANE Select
ENSP00000262916.6:p.Asp262=
ENST00000347132.9:c.786C>T
ENSP00000262916.6:p.Asp262=
ENST00000443478.3:c.472C>T
ENST00000506017.1:n.105C>T
ENST00000509682.6:c.786C>T
ENSP00000423756.2:p.Asp262=
NM_004700.3:c.786C>T
NP_004691.2:p.Asp262=
NM_172163.2:c.786C>T
NP_751895.1:p.Asp262=
XM_011542417.1:c.786C>T
XP_011540719.1:p.Asp262=
XM_011542418.1:c.786C>T
XP_011540720.1:p.Asp262=
XM_011542419.1:c.786C>T
XP_011540721.1:p.Asp262=
XM_011542420.1:c.786C>T
XP_011540722.1:p.Asp262=
XR_946798.1:n.792C>T
XR_946799.1:n.792C>T
XR_946800.1:n.792C>T
XM_017002792.1:c.-232C>T
XP_016858281.1:n.-232C>T
NM_004700.4:c.786C>T
MANE Select
NP_004691.2:p.Asp262=
NM_172163.3:c.786C>T
NP_751895.1:p.Asp262=