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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:
6104
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.64615894A>G , CM000670.2:g.64615894A>G
GRCh38
NC_000008.10:g.65528451A>G , CM000670.1:g.65528451A>G
GRCh37
NC_000008.9:g.65691005A>G
NCBI36
NG_008338.1:g.187898T>C
NG_008338.2:g.187898T>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000310193.4:c.647T>C
MANE Select
ENSP00000310721.3:p.Phe216Ser
ENST00000310193.3:c.647T>C
ENSP00000310721.3:p.Phe216Ser
NM_004820.3:c.647T>C
NP_004811.1:p.Phe216Ser
NM_001324112.1:c.647T>C
NP_001311041.1:p.Phe216Ser
NM_004820.4:c.647T>C
NP_004811.1:p.Phe216Ser
XM_017014002.1:c.713T>C
XP_016869491.1:p.Phe238Ser
NM_004820.5:c.647T>C
MANE Select
NP_004811.1:p.Phe216Ser
NM_001324112.2:c.647T>C
NP_001311041.1:p.Phe216Ser