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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_000003.12:g.46357531C>G , CM000665.2:g.46357531C>G
GRCh38
NC_000003.11:g.46399022C>G , CM000665.1:g.46399022C>G
GRCh37
NC_000003.10:g.46374026C>G
NCBI36
NG_021428.1:g.8788C>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000445132.3:c.4C>G
MANE Select
ENSP00000399285.2:p.Leu2Val
ENST00000292301.4:c.4C>G
ENSP00000292301.3:p.Leu2Val
ENST00000400888.2:c.4C>G
ENSP00000383681.2:p.Leu2Val
ENST00000421659.1:c.4C>G
ENSP00000396736.1:p.Leu2Val
ENST00000445132.2:c.4C>G
ENSP00000399285.2:p.Leu2Val
ENST00000465202.1:n.315-586C>G
NM_001123041.2:c.4C>G
NP_001116513.2:p.Leu2Val
NM_001123396.1:c.4C>G
NP_001116868.1:p.Leu2Val
XM_011534069.1:c.4C>G
XP_011532371.1:p.Leu2Val
NM_001123396.2:c.4C>G
NP_001116868.1:p.Leu2Val
NM_001123396.3:c.4C>G
NP_001116868.1:p.Leu2Val
NM_001123041.3:c.4C>G
NP_001116513.2:p.Leu2Val
NM_001123396.4:c.4C>G
MANE Select
NP_001116868.1:p.Leu2Val