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Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.2046296G>C , CM000678.2:g.2046296G>C
GRCh38
NC_000016.9:g.2096297G>C , CM000678.1:g.2096297G>C
GRCh37
NC_000016.8:g.2036298G>C
NCBI36
NG_005895.1:g.1991G>C , LRG_487:g.1991G>C
NG_008412.1:g.6571C>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000651570.2:c.186C>G
MANE Select
ENSP00000498421.1:p.Gly62=
ENST00000651583.1:c.141C>G
ENSP00000498821.1:p.Gly47=
ENST00000219066.5:c.210C>G
ENSP00000219066.1:p.Gly70=
ENST00000561841.1:c.106C>G
ENST00000566380.5:c.149C>G
ENST00000568513.5:c.157C>G
NM_002528.5:c.210C>G
NP_002519.1:p.Gly70=
XM_011522505.1:c.210C>G
XP_011520807.1:p.Gly70=
NM_001318193.1:c.210C>G
NP_001305122.1:p.Gly70=
NM_001318194.1:c.8C>G
NP_001305123.1:p.Ala3Gly
NM_002528.6:c.210C>G
NP_002519.1:p.Gly70=
XM_017023253.1:c.210C>G
XP_016878742.1:p.Gly70=
NM_001318193.2:c.186C>G
NP_001305122.2:p.Gly62=
NM_002528.7:c.186C>G
MANE Select
NP_002519.2:p.Gly62=
NM_001318194.2:c.8C>G
NP_001305123.1:p.Ala3Gly