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Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.45112675A>C , CM000677.2:g.45112675A>C
GRCh38
NC_000015.9:g.45404873A>C , CM000677.1:g.45404873A>C
GRCh37
NC_000015.8:g.43192165A>C
NCBI36
NG_009447.1:g.6487T>G
NG_016992.1:g.3351A>C
Transcript Alleles
HGVS
Amino-acid Change
NM_001363711.2:c.204T>G
MANE Select
NP_001350640.1:p.Gly68=
ENST00000389039.11:c.204T>G
MANE Select
ENSP00000373691.7:p.Gly68=
NM_001363711.1:c.204T>G
NP_001350640.1:p.Gly68=
NM_014080.4:c.204T>G
NP_054799.4:p.Gly68=
NM_014080.5:c.204T>G
NP_054799.4:p.Gly68=
ENST00000389039.10:c.204T>G
ENSP00000373691.6:p.Gly68=
ENST00000558383.1:n.247T>G
ENST00000603300.1:c.204T>G
ENSP00000475084.1:p.Gly68=
XM_005254421.2:c.204T>G
XP_005254478.1:p.Gly68=