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Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.103100525C= , CM000676.2:g.103100525C=
GRCh38
NC_000014.8:g.103566862C= , CM000676.1:g.103566862C=
GRCh37
NC_000014.7:g.102636615C=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000687959.1:c.306C=
ENSP00000508483.1:p.Ala102=
ENST00000688303.1:c.306C=
MANE Select
ENSP00000509130.1:p.Ala102=
ENST00000380069.7:c.306C=
ENSP00000369409.3:p.Ala102=
ENST00000559116.1:c.198C=
ENSP00000454163.1:p.Ala66=
NM_001077594.1:c.306C=
NP_001071062.1:p.Ala102=
XM_011537323.1:c.480C=
XP_011535625.1:p.Ala160=
XM_011537324.1:c.480C=
XP_011535626.1:p.Ala160=
XM_011537325.1:c.306C=
XP_011535627.1:p.Ala102=
XM_011537326.1:c.306C=
XP_011535628.1:p.Ala102=
XM_011537327.1:c.306C=
XP_011535629.1:p.Ala102=
XM_011537328.1:c.306C=
XP_011535630.1:p.Ala102=
XM_011537329.1:c.306C=
XP_011535631.1:p.Ala102=
XM_011537330.1:c.306C=
XP_011535632.1:p.Ala102=
XM_011537331.1:c.306C=
XP_011535633.1:p.Ala102=
XM_011537332.1:c.306C=
XP_011535634.1:p.Ala102=
XM_011537333.1:c.417C=
XP_011535635.1:p.Ala139=
XM_011537334.1:c.-970C=
XP_011535636.1:n.-970C=
XR_943558.1:n.1035C=
XM_011537323.3:c.480C=
XP_011535625.1:p.Ala160=
XM_011537324.2:c.480C=
XP_011535626.1:p.Ala160=
XM_011537325.2:c.306C=
XP_011535627.1:p.Ala102=
XM_011537327.2:c.306C=
XP_011535629.1:p.Ala102=
XM_011537328.2:c.306C=
XP_011535630.1:p.Ala102=
XM_011537329.2:c.306C=
XP_011535631.1:p.Ala102=
XM_011537330.2:c.306C=
XP_011535632.1:p.Ala102=
XM_011537332.2:c.306C=
XP_011535634.1:p.Ala102=
XM_011537333.2:c.417C=
XP_011535635.1:p.Ala139=
XR_943558.2:n.1062C=
NM_001077594.2:c.306C=
MANE Select
NP_001071062.1:p.Ala102=
NM_001394941.1:c.306C=
NP_001381870.1:p.Ala102=
NM_001394942.1:c.306C=
NP_001381871.1:p.Ala102=