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Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.94780653G>T , CM000672.2:g.94780653G>T
GRCh38
NC_000010.10:g.96540410G>T , CM000672.1:g.96540410G>T
GRCh37
NC_000010.9:g.96530400G>T
NCBI36
NG_008384.2:g.22948G>T
NG_008384.3:g.22973G>T
Transcript Alleles
HGVS
Amino-acid Change
NM_000769.4:c.636G>T
MANE Select
NP_000760.1:p.Trp212Cys
ENST00000371321.9:c.636G>T
MANE Select
ENSP00000360372.3:p.Trp212Cys
NM_000769.2:c.636G>T
NP_000760.1:p.Trp212Cys
ENST00000371321.7:c.636G>T
ENSP00000360372.3:p.Trp212Cys
ENST00000464755.1:c.1399G>T
ENSP00000483243.1:n.1399G>T
ENST00000645461.1:n.1689G>T