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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_000002.12:g.108378359G>C , CM000664.2:g.108378359G>C
GRCh38
NC_000002.11:g.108994815G>C , CM000664.1:g.108994815G>C
GRCh37
NC_000002.10:g.108361247G>C
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000272452.7:c.22G>C
MANE Select
ENSP00000272452.2:p.Asp8His
ENST00000272452.6:c.22G>C
ENSP00000272452.2:p.Asp8His
ENST00000409309.3:c.22G>C
ENSP00000387225.3:p.Asp8His
ENST00000494122.1:n.449G>C
NM_006588.2:c.22G>C
NP_006579.2:p.Asp8His
XM_005263919.2:c.22G>C
XP_005263976.1:p.Asp8His
NM_001321770.1:c.22G>C
NP_001308699.1:p.Asp8His
NM_006588.3:c.22G>C
NP_006579.2:p.Asp8His
NR_135776.1:n.449G>C
NR_135779.1:n.449G>C
NM_006588.4:c.22G>C
MANE Select
NP_006579.2:p.Asp8His
NM_001321770.2:c.22G>C
NP_001308699.1:p.Asp8His
NR_135776.2:n.406G>C
NR_135779.2:n.406G>C