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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_000006.12:g.18130707G= , CM000668.2:g.18130707G=
GRCh38
NC_000006.11:g.18130938G= , CM000668.1:g.18130938G=
GRCh37
NC_000006.10:g.18238917G=
NCBI36
NG_012137.2:g.29437C=
NG_012137.3:g.29437C=
Transcript Alleles
HGVS
Amino-acid change
ENST00000309983.5:c.699C=
MANE Select
ENSP00000312304.4:p.Asp233=
ENST00000309983.4:c.699C=
ENSP00000312304.4:p.Asp233=
NM_000367.3:c.699C=
NP_000358.1:p.Asp233=
XM_011514839.1:c.654C=
XP_011513141.1:p.Asp218=
XM_011514840.1:c.630C=
XP_011513142.1:p.Asp210=
NM_000367.4:c.699C=
NP_000358.1:p.Asp233=
NM_001346817.1:c.699C=
NP_001333746.1:p.Asp233=
NM_001346818.1:c.654C=
NP_001333747.1:p.Asp218=
NM_000367.5:c.699C=
MANE Select
NP_000358.1:p.Asp233=