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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_000011.10:g.112016773C>T , CM000673.2:g.112016773C>T
GRCh38
NC_000011.9:g.111887497C>T , CM000673.1:g.111887497C>T
GRCh37
NC_000011.8:g.111392707C>T
NCBI36
NG_033127.1:g.94631C>T
NG_033127.2:g.94630C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000440460.7:c.1839C>T
MANE Select
ENSP00000394352.3:p.Pro613=
ENST00000440460.6:c.1839C>T
ENSP00000394352.3:p.Pro613=
ENST00000526500.5:n.835C>T
ENST00000615255.1:c.1206C>T
ENSP00000480808.1:p.Pro402=
ENST00000618522.4:n.1192C>T
NM_001037954.3:c.1839C>T
NP_001033043.1:p.Pro613=
NM_033425.4:c.1206C>T
NP_219493.1:p.Pro402=
XM_005277726.3:c.1839C>T
XP_005277783.1:p.Pro613=
XM_005277727.3:c.1836C>T
XP_005277784.1:p.Pro612=
XM_005277728.3:c.1206C>T
XP_005277785.1:p.Pro402=
XM_011543045.1:c.957C>T
XP_011541347.1:p.Pro319=
XM_011543046.1:c.951C>T
XP_011541348.1:p.Pro317=
XM_017018466.2:c.1836C>T
XP_016873955.1:p.Pro612=
XM_017018467.1:c.1836C>T
XP_016873956.1:p.Pro612=
XM_017018468.1:c.957C>T
XP_016873957.1:p.Pro319=
XM_017018469.1:c.951C>T
XP_016873958.1:p.Pro317=
XM_024448742.1:c.1731C>T
XP_024304510.1:p.Pro577=
XM_024448743.1:c.1728C>T
XP_024304511.1:p.Pro576=
NM_001037954.4:c.1839C>T
MANE Select
NP_001033043.1:p.Pro613=
NM_033425.5:c.1206C>T
NP_219493.1:p.Pro402=