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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.
Linked Data
ClinVar Variation Id:
39694
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.153971810A>G , CM000685.2:g.153971810A>G
GRCh38
NC_000023.10:g.153237261A>G , CM000685.1:g.153237261A>G
GRCh37
NC_000023.9:g.152890455A>G
NCBI36
NG_012513.1:g.4559T>C
NG_021222.1:g.4271A>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000310441.12:c.-970T>C
MANE Select
ENSP00000309555.7:n.-970T>C
XM_006724815.1:c.-970T>C
XP_006724878.1:n.-970T>C
XM_006724816.1:c.-970T>C
XP_006724879.1:n.-970T>C
XM_011531144.1:c.-970T>C
XP_011529446.1:n.-970T>C
XM_011531145.1:c.-970T>C
XP_011529447.1:n.-970T>C
XM_011531146.1:c.-970T>C
XP_011529448.1:n.-970T>C
XM_011531147.1:c.-970T>C
XP_011529449.1:n.-970T>C
XM_011531148.1:c.-970T>C
XP_011529450.1:n.-970T>C
XM_011531149.1:c.-970T>C
XP_011529451.1:n.-970T>C
XM_006724815.3:c.-970T>C
XP_006724878.1:n.-970T>C
XM_006724816.3:c.-970T>C
XP_006724879.1:n.-970T>C
XM_011531147.3:c.-970T>C
XP_011529449.1:n.-970T>C
XM_011531148.3:c.-970T>C
XP_011529450.1:n.-970T>C
XM_017029471.2:c.-970T>C
XP_016884960.1:n.-970T>C
NM_005334.3:c.-970T>C
MANE Select
NP_005325.2:n.-970T>C