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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.23865506G>A , CM000663.2:g.23865506G>A
GRCh38
NC_000001.10:g.24191996G>A , CM000663.1:g.24191996G>A
GRCh37
NC_000001.9:g.24064583G>A
NCBI36
NG_013346.1:g.7864C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000374479.4:c.509C>T
MANE Select
ENSP00000363603.3:p.Thr170Ile
ENST00000374479.3:c.509C>T
ENSP00000363603.3:p.Thr170Ile
NM_000147.4:c.509C>T
NP_000138.2:p.Thr170Ile
XM_005245821.1:c.134C>T
XP_005245878.1:p.Thr45Ile
XM_011541167.1:c.-125C>T
XP_011539469.1:n.-125C>T
XM_005245821.3:c.134C>T
XP_005245878.1:p.Thr45Ile
XM_011541167.3:c.-125C>T
XP_011539469.1:n.-125C>T
XM_017000905.2:c.206C>T
XP_016856394.1:p.Thr69Ile
NM_000147.5:c.509C>T
MANE Select
NP_000138.2:p.Thr170Ile
NR_174379.1:n.687C>T
NR_174380.1:n.736C>T
NR_174381.1:n.575C>T
NR_174382.1:n.972C>T