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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_000001.11:g.1512237C>T , CM000663.2:g.1512237C>T
GRCh38
NC_000001.10:g.1447617C>T , CM000663.1:g.1447617C>T
GRCh37
NC_000001.9:g.1437480C>T
NCBI36
NG_053035.1:g.5095C>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000378756.8:c.-32C>T
MANE Select
ENSP00000368031.3:n.-32C>T
ENST00000672388.1:n.73C>T
ENST00000378755.9:c.-32C>T
ENSP00000368030.5:n.-32C>T
ENST00000378756.7:c.-32C>T
ENSP00000368031.3:n.-32C>T
NM_001170535.1:c.-32C>T
NP_001164006.1:n.-32C>T
NM_018188.3:c.-32C>T
NP_060658.3:n.-32C>T
NM_001170535.2:c.-32C>T
NP_001164006.1:n.-32C>T
NM_018188.4:c.-32C>T
NP_060658.3:n.-32C>T
XM_024448098.1:c.-32C>T
XP_024303866.1:n.-32C>T
XR_001737282.1:n.95C>T
XR_002956997.1:n.95C>T
NM_001170535.3:c.-32C>T
MANE Select
NP_001164006.1:n.-32C>T
NM_018188.5:c.-32C>T
NP_060658.3:n.-32C>T