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Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.102501360A>G , CM000666.2:g.102501360A>G
GRCh38
NC_000004.11:g.103422517A>G , CM000666.1:g.103422517A>G
GRCh37
NC_000004.10:g.103641549A>G
NCBI36
NG_050628.1:g.5032A>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000507079.6:c.-482A>G
ENSP00000426147.2:n.-482A>G
ENST00000226574.9:c.-436A>G
MANE Select
ENSP00000226574.4:n.-436A>G
ENST00000226574.8:c.-436A>G
ENSP00000226574.4:n.-436A>G
ENST00000394820.8:c.-436A>G
ENSP00000378297.4:n.-436A>G
NM_001165412.1:c.-436A>G
NP_001158884.1:n.-436A>G
NM_003998.3:c.-436A>G
NP_003989.2:n.-436A>G
XM_011532467.1:c.532T>C
XP_011530769.1:p.Ser178Pro
NR_136202.1:n.48+1079T>C
XM_024454067.1:c.-482A>G
XP_024309835.1:n.-482A>G
XM_024454069.1:c.-482A>G
XP_024309837.1:n.-482A>G
NM_003998.4:c.-436A>G
MANE Select
NP_003989.2:n.-436A>G
NM_001165412.2:c.-436A>G
NP_001158884.1:n.-436A>G
NM_001382626.1:c.-506A>G
NP_001369555.1:n.-506A>G
NM_001382627.1:c.-506A>G
NP_001369556.1:n.-506A>G
NM_001382628.1:c.-429A>G
NP_001369557.1:n.-429A>G