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Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.95319529C>G , CM000669.2:g.95319529C>G
GRCh38
NC_000007.13:g.94948841C>G , CM000669.1:g.94948841C>G
GRCh37
NC_000007.12:g.94786777C>G
NCBI36
NG_008779.1:g.10044G>C
NG_008779.2:g.10178G>C
Transcript Alleles
HGVS
Amino-acid Change
NM_000446.7:c.75-1136G>C
MANE Select
NP_000437.3:n.75-1136G>C
ENST00000222381.8:c.75-1136G>C
MANE Select
ENSP00000222381.3:n.75-1136G>C
NM_000446.5:c.75-1136G>C
NP_000437.3:n.75-1136G>C
NM_000446.6:c.75-1136G>C
NP_000437.3:n.75-1136G>C
ENST00000222381.7:c.75-1136G>C
ENSP00000222381.3:n.75-1136G>C
ENST00000433729.1:c.75-1136G>C
ENSP00000407359.1:n.75-1136G>C