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Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.102501381C>T , CM000666.2:g.102501381C>T
GRCh38
NC_000004.11:g.103422538C>T , CM000666.1:g.103422538C>T
GRCh37
NC_000004.10:g.103641570C>T
NCBI36
NG_050628.1:g.5053C>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000507079.6:c.-461C>T
ENSP00000426147.2:n.-461C>T
ENST00000226574.9:c.-415C>T
MANE Select
ENSP00000226574.4:n.-415C>T
ENST00000226574.8:c.-415C>T
ENSP00000226574.4:n.-415C>T
ENST00000394820.8:c.-415C>T
ENSP00000378297.4:n.-415C>T
NM_001165412.1:c.-415C>T
NP_001158884.1:n.-415C>T
NM_003998.3:c.-415C>T
NP_003989.2:n.-415C>T
XM_011532467.1:c.511G>A
XP_011530769.1:p.Ala171Thr
NR_136202.1:n.48+1058G>A
XM_024454067.1:c.-461C>T
XP_024309835.1:n.-461C>T
XM_024454069.1:c.-461C>T
XP_024309837.1:n.-461C>T
NM_003998.4:c.-415C>T
MANE Select
NP_003989.2:n.-415C>T
NM_001165412.2:c.-415C>T
NP_001158884.1:n.-415C>T
NM_001382626.1:c.-485C>T
NP_001369555.1:n.-485C>T
NM_001382627.1:c.-485C>T
NP_001369556.1:n.-485C>T
NM_001382628.1:c.-408C>T
NP_001369557.1:n.-408C>T