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WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled: We are investigating the periodic unresponsiveness in the Registry. Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries. This temporarily affects the API and the UI.
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.67543032T>C , CM000677.2:g.67543032T>C
GRCh38
NC_000015.9:g.67835370T>C , CM000677.1:g.67835370T>C
GRCh37
NC_000015.8:g.65622424T>C
NCBI36
NG_029143.1:g.5350T>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000178640.10:c.-304T>C
MANE Select
ENSP00000178640.5:n.-304T>C
ENST00000178640.9:c.-304T>C
ENSP00000178640.5:n.-304T>C
NM_002757.3:c.-304T>C
NP_002748.1:n.-304T>C
NM_145160.2:c.-304T>C
NP_660143.1:n.-304T>C
XM_011521784.1:c.-304T>C
XP_011520086.1:n.-304T>C
XM_011521785.1:c.-304T>C
XP_011520087.1:n.-304T>C
XM_011521786.1:c.-304T>C
XP_011520088.1:n.-304T>C
XM_011521787.1:c.-304T>C
XP_011520089.1:n.-304T>C
XM_011521788.1:c.-304T>C
XP_011520090.1:n.-304T>C
XM_011521787.3:c.-304T>C
XP_011520089.1:n.-304T>C
XM_011521788.3:c.-304T>C
XP_011520090.1:n.-304T>C
XM_017022414.2:c.-304T>C
XP_016877903.1:n.-304T>C
XM_024449988.1:c.-942T>C
XP_024305756.1:n.-942T>C
XR_001751355.2:n.348T>C
NM_145160.3:c.-304T>C
MANE Select
NP_660143.1:n.-304T>C
NM_002757.4:c.-304T>C
NP_002748.1:n.-304T>C