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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_000003.12:g.186620654T>C , CM000665.2:g.186620654T>C
GRCh38
NC_000003.11:g.186338443T>C , CM000665.1:g.186338443T>C
GRCh37
NC_000003.10:g.187821137T>C
NCBI36
NG_011436.1:g.12594T>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000411641.7:c.828T>C
MANE Select
ENSP00000393887.2:p.Asp276=
ENST00000273784.5:c.831T>C
ENSP00000273784.5:p.Asp277=
ENST00000411641.6:c.828T>C
ENSP00000393887.2:p.Asp276=
NM_001622.2:c.828T>C
NP_001613.2:p.Asp276=
NM_001354571.1:c.831T>C
NP_001341500.1:p.Asp277=
NM_001354572.1:c.825T>C
NP_001341501.1:p.Asp275=
NM_001354573.1:c.744T>C
NP_001341502.1:p.Asp248=
NM_001622.3:c.828T>C
NP_001613.2:p.Asp276=
NM_001622.4:c.828T>C
MANE Select
NP_001613.2:p.Asp276=
NM_001354571.2:c.831T>C
NP_001341500.1:p.Asp277=
NM_001354572.2:c.825T>C
NP_001341501.1:p.Asp275=
NM_001354573.2:c.744T>C
NP_001341502.1:p.Asp248=