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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_000002.12:g.239082174G>T , CM000664.2:g.239082174G>T
GRCh38
NC_000002.11:g.240003870G>T , CM000664.1:g.240003870G>T
GRCh37
NC_000002.10:g.239668807G>T
NCBI36
NG_009235.1:g.323774C>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000690129.1:n.594C>A
ENST00000543185.6:c.2580C>A
MANE Select
ENSP00000440481.3:p.Pro860=
ENST00000345617.7:c.2565C>A
ENSP00000264606.3:p.Pro855=
ENST00000487617.5:n.472C>A
ENST00000543185.5:c.2229C>A
ENSP00000440481.2:p.Pro743=
NM_006037.3:c.2565C>A
NP_006028.2:p.Pro855=
XM_006712877.2:c.2637C>A
XP_006712940.1:p.Pro879=
XM_006712878.2:c.2580C>A
XP_006712941.1:p.Pro860=
XM_006712879.2:c.2499C>A
XP_006712942.1:p.Pro833=
XM_006712880.2:c.2499C>A
XP_006712943.1:p.Pro833=
XM_011512217.1:c.2652C>A
XP_011510519.1:p.Pro884=
XM_011512218.1:c.2637C>A
XP_011510520.1:p.Pro879=
XM_011512219.1:c.2622C>A
XP_011510521.1:p.Pro874=
XM_011512220.1:c.2583C>A
XP_011510522.1:p.Pro861=
XM_011512221.1:c.2580C>A
XP_011510523.1:p.Pro860=
XM_011512222.1:c.2580C>A
XP_011510524.1:p.Pro860=
XM_011512223.1:c.2580C>A
XP_011510525.1:p.Pro860=
XM_011512224.1:c.2565C>A
XP_011510526.1:p.Pro855=
XM_011512225.1:c.2550C>A
XP_011510527.1:p.Pro850=
XM_011512226.1:c.2508C>A
XP_011510528.1:p.Pro836=
XM_011512227.1:c.2436C>A
XP_011510529.1:p.Pro812=
XM_011512228.1:c.2499C>A
XP_011510530.1:p.Pro833=
XM_011512229.1:c.2499C>A
XP_011510531.1:p.Pro833=
XM_011512230.1:c.1332C>A
XP_011510532.1:p.Pro444=
XM_006712877.3:c.2637C>A
XP_006712940.1:p.Pro879=
XM_006712878.3:c.2580C>A
XP_006712941.1:p.Pro860=
XM_006712879.3:c.2499C>A
XP_006712942.1:p.Pro833=
XM_006712880.3:c.2499C>A
XP_006712943.1:p.Pro833=
XM_011512217.2:c.2652C>A
XP_011510519.1:p.Pro884=
XM_011512218.2:c.2637C>A
XP_011510520.1:p.Pro879=
XM_011512219.2:c.2622C>A
XP_011510521.1:p.Pro874=
XM_011512220.2:c.2583C>A
XP_011510522.1:p.Pro861=
XM_011512222.3:c.2580C>A
XP_011510524.1:p.Pro860=
XM_011512223.2:c.2580C>A
XP_011510525.1:p.Pro860=
XM_011512224.2:c.2565C>A
XP_011510526.1:p.Pro855=
XM_011512225.2:c.2550C>A
XP_011510527.1:p.Pro850=
XM_011512226.2:c.2508C>A
XP_011510528.1:p.Pro836=
XM_011512227.2:c.2436C>A
XP_011510529.1:p.Pro812=
XM_017005394.1:c.2520C>A
XP_016860883.1:p.Pro840=
XM_017005395.1:c.2064C>A
XP_016860884.1:p.Pro688=
XM_024453257.1:c.2499C>A
XP_024309025.1:p.Pro833=
NM_001378414.1:c.2580C>A
MANE Select
NP_001365343.1:p.Pro860=
NM_001378415.1:c.2580C>A
NP_001365344.1:p.Pro860=
NM_001378416.1:c.2565C>A
NP_001365345.1:p.Pro855=
NM_001378417.1:c.2565C>A
NP_001365346.1:p.Pro855=
NM_006037.4:c.2565C>A
NP_006028.2:p.Pro855=