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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_000023.11:g.22033007T>G , CM000685.2:g.22033007T>G
GRCh38
NC_000023.10:g.22051125T>G , CM000685.1:g.22051125T>G
GRCh37
NC_000023.9:g.21961046T>G
NCBI36
NG_007563.2:g.5205T>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000475778.2:n.428T>G
ENST00000683214.1:n.428T>G
ENST00000684143.1:c.2T>G
ENSP00000508264.1:p.Met1Arg
ENST00000379374.5:c.2T>G
MANE Select
ENSP00000368682.4:p.Met1Arg
ENST00000379374.4:c.2T>G
ENSP00000368682.4:p.Met1Arg
NM_000444.5:c.2T>G
NP_000435.3:p.Met1Arg
NM_001282754.1:c.2T>G
NP_001269683.1:p.Met1Arg
XM_011545535.1:c.2T>G
XP_011543837.1:p.Met1Arg
XR_001755695.1:n.681T>G
NM_000444.6:c.2T>G
MANE Select
NP_000435.3:p.Met1Arg
NM_001282754.2:c.2T>G
NP_001269683.1:p.Met1Arg