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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_000010.11:g.99845684A>C , CM000672.2:g.99845684A>C
GRCh38
NC_000010.10:g.101605441A>C , CM000672.1:g.101605441A>C
GRCh37
NC_000010.9:g.101595431A>C
NCBI36
NG_011798.1:g.67979A>C
NG_011798.2:g.68087A>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000647814.1:c.4048A>C
MANE Select
ENSP00000497274.1:p.Ile1350Leu
ENST00000649459.1:n.396A>C
ENST00000370449.8:c.4048A>C
ENSP00000359478.4:p.Ile1350Leu
NM_000392.4:c.4048A>C
NP_000383.1:p.Ile1350Leu
XM_006717630.2:c.3352A>C
XP_006717693.1:p.Ile1118Leu
XR_945604.1:n.4178A>C
XR_945605.1:n.4112A>C
NM_000392.5:c.4048A>C
MANE Select
NP_000383.2:p.Ile1350Leu
XM_006717630.3:c.3352A>C
XP_006717693.1:p.Ile1118Leu
XR_945604.3:n.4232A>C
XR_945605.3:n.4164A>C