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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_000022.11:g.50624781T>C , CM000684.2:g.50624781T>C
GRCh38
NC_000022.10:g.51063209T>C , CM000684.1:g.51063209T>C
GRCh37
NC_000022.9:g.49410075T>C
NCBI36
NG_009260.2:g.8399A>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000216124.10:c.*364A>G
MANE Select
ENSP00000216124.5:n.*364A>G
ENST00000608497.1:c.180+582A>G
NM_000487.5:c.*364A>G
NP_000478.3:n.*364A>G
NM_001085425.2:c.*364A>G
NP_001078894.2:n.*364A>G
NM_001085426.2:c.*364A>G
NP_001078895.2:n.*364A>G
NM_001085427.2:c.*364A>G
NP_001078896.2:n.*364A>G
NM_001085428.2:c.*364A>G
NP_001078897.1:n.*364A>G
NM_001362782.1:c.*364A>G
NP_001349711.1:n.*364A>G
NM_000487.6:c.*364A>G
MANE Select
NP_000478.3:n.*364A>G
NM_001085425.3:c.*364A>G
NP_001078894.2:n.*364A>G
NM_001085426.3:c.*364A>G
NP_001078895.2:n.*364A>G
NM_001085427.3:c.*364A>G
NP_001078896.2:n.*364A>G
NM_001085428.3:c.*364A>G
NP_001078897.1:n.*364A>G
NM_001362782.2:c.*364A>G
NP_001349711.1:n.*364A>G