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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.39397031T>C , CM000665.2:g.39397031T>C
GRCh38
NC_000003.11:g.39438522T>C , CM000665.1:g.39438522T>C
GRCh37
NC_000003.10:g.39413526T>C
NCBI36
NG_016931.1:g.18708T>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000648579.1:c.*723T>C
ENSP00000497638.1:n.*723T>C
ENST00000650617.1:c.*511T>C
MANE Select
ENSP00000497532.1:n.*511T>C
ENST00000273158.8:c.*511T>C
ENSP00000273158.3:n.*511T>C
NM_017875.2:c.*511T>C
NP_060345.2:n.*511T>C
XM_006713214.1:c.*511T>C
XP_006713277.1:n.*511T>C
XM_011533869.1:c.*511T>C
XP_011532171.1:n.*511T>C
XM_011533870.1:c.*511T>C
XP_011532172.1:n.*511T>C
XM_011533871.1:c.*511T>C
XP_011532173.1:n.*511T>C
NM_001354798.1:c.*545T>C
NP_001341727.1:n.*545T>C
NM_017875.4:c.*511T>C
MANE Select
NP_060345.2:n.*511T>C
XM_006713214.2:c.*511T>C
XP_006713277.1:n.*511T>C
XM_011533869.2:c.*511T>C
XP_011532171.1:n.*511T>C
XM_024453611.1:c.*511T>C
XP_024309379.1:n.*511T>C
NM_001354798.2:c.*545T>C
NP_001341727.1:n.*545T>C