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Genomic Alleles
HGVS
Genome Assembly
NC_000022.11:g.42130797C= , CM000684.2:g.42130797C=
GRCh38
NC_000022.10:g.42526799C= , CM000684.1:g.42526799C=
GRCh37
NC_000022.9:g.40856743C=
NCBI36
NG_008376.3:g.4195G=
NG_008376.4:g.5014G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000645361.2:c.-6G=
MANE Select
ENSP00000496150.1:n.-6G=
ENST00000359033.4:c.-6G=
ENSP00000351927.4:n.-6G=
ENST00000360608.9:c.-6G=
ENSP00000353820.5:n.-6G=
ENST00000389970.7:c.-72G=
ENSP00000374620.4:n.-72G=
ENST00000488442.1:n.17G=
NM_000106.5:c.-6G=
NP_000097.3:n.-6G=
NM_001025161.2:c.-6G=
NP_001020332.2:n.-6G=
XM_011529966.1:c.-6G=
XP_011528268.1:n.-6G=
XM_011529967.1:c.-6G=
XP_011528269.1:n.-6G=
XM_011529968.1:c.-6G=
XP_011528270.1:n.-6G=
XM_011529969.1:c.37+500G=
XP_011528271.1:n.37+500G=
XM_011529970.1:c.-6G=
XP_011528272.1:n.-6G=
XM_011529971.1:c.37+500G=
XP_011528273.1:n.37+500G=
XM_011529972.1:c.-6G=
XP_011528274.1:n.-6G=
XR_430455.2:n.328+109C=
NM_000106.6:c.-6G=
MANE Select
NP_000097.3:n.-6G=
XR_002958749.1:n.275+109C=
NM_001025161.3:c.-6G=
NP_001020332.2:n.-6G=