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Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.121132969C= , CM000674.2:g.121132969C=
GRCh38
NC_000012.11:g.121570772C= , CM000674.1:g.121570772C=
GRCh37
NC_000012.10:g.120055155C=
NCBI36
NG_011471.2:g.5095C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000328963.10:c.-2C=
MANE Select
ENSP00000330696.6:n.-2C=
ENST00000261826.10:c.-2C=
ENSP00000261826.6:n.-2C=
ENST00000328963.9:c.-2C=
ENSP00000330696.6:n.-2C=
ENST00000535928.5:c.-2C=
ENSP00000439961.1:n.-2C=
ENST00000537312.5:c.-2C=
ENSP00000438586.1:n.-2C=
ENST00000539695.5:n.68C=
ENST00000545434.5:c.-2C=
ENSP00000445564.1:n.-2C=
NM_002562.5:c.-2C=
NP_002553.3:n.-2C=
NR_033948.1:n.142C=
NR_033949.1:n.142C=
NR_033950.1:n.142C=
NR_033951.1:n.142C=
NR_033952.1:n.142C=
NR_033953.1:n.151C=
NR_033954.1:n.142C=
NR_033955.1:n.142C=
NR_033956.1:n.142C=
XM_011538418.1:c.-2C=
XP_011536720.1:n.-2C=
XM_011538419.1:c.-145C=
XP_011536721.1:n.-145C=
XM_011538419.3:c.-145C=
XP_011536721.1:n.-145C=
XM_017019364.2:c.-515C=
XP_016874853.1:n.-515C=
XM_017019365.2:c.-346C=
XP_016874854.1:n.-346C=
XM_017019366.2:c.-682C=
XP_016874855.1:n.-682C=
XM_017019367.2:c.-513C=
XP_016874856.1:n.-513C=
XR_001749352.2:n.187-6128G=
XR_001749354.2:n.187-6128G=
NM_002562.6:c.-2C=
MANE Select
NP_002553.3:n.-2C=
NR_033948.2:n.94C=
NR_033949.2:n.94C=
NR_033950.2:n.94C=
NR_033951.2:n.94C=
NR_033952.2:n.94C=
NR_033953.2:n.94C=
NR_033954.2:n.94C=
NR_033955.2:n.94C=
NR_033956.2:n.94C=