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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_000006.12:g.31572294G>C , CM000668.2:g.31572294G>C
GRCh38
NC_000006.11:g.31540071G>C , CM000668.1:g.31540071G>C
GRCh37
NC_000006.10:g.31648050G>C
NCBI36
NG_007462.1:g.1722G>C
NG_012010.1:g.5196G>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000418386.3:c.-162G>C
MANE Select
ENSP00000413450.2:n.-162G>C
ENST00000418386.2:c.-162G>C
ENSP00000413450.2:n.-162G>C
ENST00000454783.5:c.-18G>C
ENSP00000403495.1:n.-18G>C
ENST00000471842.1:n.1G>C
ENST00000489638.5:n.25G>C
NM_000595.3:c.-162G>C
NP_000586.2:n.-162G>C
NM_001159740.2:c.-18G>C
NP_001153212.1:n.-18G>C
XM_011514614.1:c.-18G>C
XP_011512916.1:n.-18G>C
XM_011514615.1:c.-18G>C
XP_011512917.1:n.-18G>C
XM_011514616.1:c.-18G>C
XP_011512918.1:n.-18G>C
XM_011514617.1:c.-18G>C
XP_011512919.1:n.-18G>C
XM_011514618.1:c.-18G>C
XP_011512920.1:n.-18G>C
XR_926695.1:n.116+289C>G
NR_149045.1:n.121+289C>G
XM_011514615.2:c.-18G>C
XP_011512917.1:n.-18G>C
XM_011514616.2:c.-18G>C
XP_011512918.1:n.-18G>C
XM_011514617.2:c.-18G>C
XP_011512919.1:n.-18G>C
NM_000595.4:c.-162G>C
MANE Select
NP_000586.2:n.-162G>C