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Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.8122018A>G , CM000679.2:g.8122018A>G
GRCh38
NC_000017.10:g.8025336A>G , CM000679.1:g.8025336A>G
GRCh37
NC_000017.9:g.7966061A>G
NCBI36
NG_015807.1:g.1899T>C
NG_015816.1:g.7075T>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000541682.7:c.246T>C
MANE Select
ENSP00000446205.2:p.Val82=
ENST00000317814.8:c.231T>C
ENSP00000314774.4:p.Val77=
ENST00000541682.6:c.246T>C
ENSP00000446205.2:p.Val82=
ENST00000577735.1:c.222T>C
ENSP00000462491.1:p.Val74=
NM_001165967.1:c.246T>C
NP_001159439.1:p.Val82=
NM_032580.3:c.231T>C
NP_115969.2:p.Val77=
XM_011524038.1:c.351T>C
XP_011522340.1:p.Val117=
XM_011524039.1:c.342T>C
XP_011522341.1:p.Val114=
XM_011524040.1:c.342T>C
XP_011522342.1:p.Val114=
XM_011524041.1:c.333T>C
XP_011522343.1:p.Val111=
XM_011524042.1:c.204T>C
XP_011522344.1:p.Val68=
XR_934203.1:n.69+2204A>G
XM_017025232.1:c.351T>C
XP_016880721.1:p.Val117=
XM_024451007.1:c.351T>C
XP_024306775.1:p.Val117=
NM_001165967.2:c.246T>C
MANE Select
NP_001159439.1:p.Val82=
NM_032580.4:c.231T>C
NP_115969.2:p.Val77=