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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored Protein allele requests are no longer disabled. Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.23865597C>G , CM000663.2:g.23865597C>G
GRCh38
NC_000001.10:g.24192087C>G , CM000663.1:g.24192087C>G
GRCh37
NC_000001.9:g.24064674C>G
NCBI36
NG_013346.1:g.7773G>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000374479.4:c.418G>C
MANE Select
ENSP00000363603.3:p.Glu140Gln
ENST00000374479.3:c.418G>C
ENSP00000363603.3:p.Glu140Gln
NM_000147.4:c.418G>C
NP_000138.2:p.Glu140Gln
XM_005245821.1:c.43G>C
XP_005245878.1:p.Glu15Gln
XM_011541167.1:c.-216G>C
XP_011539469.1:n.-216G>C
XM_005245821.3:c.43G>C
XP_005245878.1:p.Glu15Gln
XM_011541167.3:c.-216G>C
XP_011539469.1:n.-216G>C
XM_017000905.2:c.115G>C
XP_016856394.1:p.Glu39Gln
NM_000147.5:c.418G>C
MANE Select
NP_000138.2:p.Glu140Gln
NR_174379.1:n.596G>C
NR_174380.1:n.645G>C
NR_174381.1:n.484G>C
NR_174382.1:n.881G>C