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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_000001.11:g.23865604C>G , CM000663.2:g.23865604C>G
GRCh38
NC_000001.10:g.24192094C>G , CM000663.1:g.24192094C>G
GRCh37
NC_000001.9:g.24064681C>G
NCBI36
NG_013346.1:g.7766G>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000374479.4:c.411G>C
MANE Select
ENSP00000363603.3:p.Lys137Asn
ENST00000374479.3:c.411G>C
ENSP00000363603.3:p.Lys137Asn
NM_000147.4:c.411G>C
NP_000138.2:p.Lys137Asn
XM_005245821.1:c.36G>C
XP_005245878.1:p.Lys12Asn
XM_011541167.1:c.-223G>C
XP_011539469.1:n.-223G>C
XM_005245821.3:c.36G>C
XP_005245878.1:p.Lys12Asn
XM_011541167.3:c.-223G>C
XP_011539469.1:n.-223G>C
XM_017000905.2:c.108G>C
XP_016856394.1:p.Lys36Asn
NM_000147.5:c.411G>C
MANE Select
NP_000138.2:p.Lys137Asn
NR_174379.1:n.589G>C
NR_174380.1:n.638G>C
NR_174381.1:n.477G>C
NR_174382.1:n.874G>C