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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_000005.10:g.80065453C>A , CM000667.2:g.80065453C>A
GRCh38
NC_000005.9:g.79361276C>A , CM000667.1:g.79361276C>A
GRCh37
NC_000005.8:g.79397032C>A
NCBI36
NG_047084.1:g.79143C>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000350881.6:c.1170C>A
MANE Select
ENSP00000339730.2:p.Pro390=
ENST00000511733.1:c.897C>A
ENSP00000422298.1:p.Pro299=
NM_001306212.1:c.897C>A
NP_001293141.1:p.Pro299=
NM_001306213.1:c.897C>A
NP_001293142.1:p.Pro299=
NM_001306214.1:c.897C>A
NP_001293143.1:p.Pro299=
NM_003248.4:c.1170C>A
NP_003239.2:p.Pro390=
NM_003248.5:c.1170C>A
NP_003239.2:p.Pro390=
XM_017009798.2:c.1170C>A
XP_016865287.1:p.Pro390=
XM_017009799.2:c.1170C>A
XP_016865288.1:p.Pro390=
XR_002956176.1:n.1361C>A
NM_003248.6:c.1170C>A
MANE Select
NP_003239.2:p.Pro390=
NM_001306212.2:c.897C>A
NP_001293141.1:p.Pro299=
NM_001306213.2:c.897C>A
NP_001293142.1:p.Pro299=
NM_001306214.2:c.897C>A
NP_001293143.1:p.Pro299=