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Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.1104117C= , CM000681.2:g.1104117C=
GRCh38
NC_000019.9:g.1104116C= , CM000681.1:g.1104116C=
GRCh37
NC_000019.8:g.1055116C=
NCBI36
NG_050621.1:g.5192C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000593032.6:c.-8C=
ENSP00000465828.4:n.-8C=
ENST00000706713.1:c.74C=
ENSP00000516510.1:p.Ala25=
ENST00000706714.1:c.-8C=
ENSP00000516511.1:n.-8C=
ENST00000354171.13:c.74C=
MANE Select
ENSP00000346103.7:p.Ala25=
ENST00000589115.6:c.74C=
ENSP00000466872.3:p.Ala25=
ENST00000354171.12:c.74C=
ENSP00000346103.7:p.Ala25=
ENST00000588919.5:c.-8C=
ENSP00000464989.3:n.-8C=
ENST00000589115.5:c.74C=
ENSP00000466872.2:p.Ala25=
ENST00000593032.5:c.-8C=
ENSP00000465828.3:n.-8C=
ENST00000611653.4:c.-8C=
ENSP00000483655.1:n.-8C=
ENST00000616066.4:c.74C=
ENSP00000485000.1:p.Ala25=
NM_001039847.2:c.74C=
NP_001034936.1:p.Ala25=
NM_002085.4:c.74C=
NP_002076.2:p.Ala25=
NM_001039847.3:c.74C=
NP_001034936.1:p.Ala25=
NM_001367832.1:c.-8C=
NP_001354761.1:n.-8C=
NM_002085.5:c.74C=
MANE Select
NP_002076.2:p.Ala25=