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SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500 New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks. This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.30900156A>T , CM000668.2:g.30900156A>T
GRCh38
NC_000006.11:g.30867933A>T , CM000668.1:g.30867933A>T
GRCh37
NC_000006.10:g.30975912A>T
NCBI36
NG_029066.1:g.21073A>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000376568.8:c.*860A>T
MANE Select
ENSP00000365752.3:n.*860A>T
ENST00000376567.6:c.*860A>T
ENSP00000365751.2:n.*860A>T
ENST00000376569.7:c.*860A>T
ENSP00000365753.3:n.*860A>T
ENST00000454612.6:c.*860A>T
ENSP00000406091.2:n.*860A>T
NM_001202521.1:c.*1719A>T
NP_001189450.1:n.*1719A>T
NM_001202522.1:c.*860A>T
NP_001189451.1:n.*860A>T
NM_001202523.1:c.*860A>T
NP_001189452.1:n.*860A>T
NM_001297652.1:c.*860A>T
NP_001284581.1:n.*860A>T
NM_001297653.1:c.*860A>T
NP_001284582.1:n.*860A>T
NM_001297654.1:c.*860A>T
NP_001284583.1:n.*860A>T
NM_001954.4:c.*860A>T
NP_001945.3:n.*860A>T
NM_013993.2:c.*860A>T
NP_054699.2:n.*860A>T
NM_013994.2:c.*860A>T
NP_054700.2:n.*860A>T
XM_006715185.1:c.*860A>T
XP_006715248.1:n.*860A>T
XM_011514882.1:c.*860A>T
XP_011513184.1:n.*860A>T
XM_011514883.1:c.*860A>T
XP_011513185.1:n.*860A>T
XM_011514884.1:c.*860A>T
XP_011513186.1:n.*860A>T
XM_011514885.1:c.*860A>T
XP_011513187.1:n.*860A>T
XM_011514886.1:c.*860A>T
XP_011513188.1:n.*860A>T
XM_011514887.1:c.*860A>T
XP_011513189.1:n.*860A>T
XM_011514888.1:c.*860A>T
XP_011513190.1:n.*860A>T
XM_006715185.2:c.*860A>T
XP_006715248.1:n.*860A>T
XM_011514882.2:c.*860A>T
XP_011513184.1:n.*860A>T
XM_011514883.2:c.*860A>T
XP_011513185.1:n.*860A>T
XM_011514885.2:c.*860A>T
XP_011513187.1:n.*860A>T
XM_011514886.2:c.*860A>T
XP_011513188.1:n.*860A>T
XM_011514887.2:c.*860A>T
XP_011513189.1:n.*860A>T
XM_017011268.2:c.*860A>T
XP_016866757.1:n.*860A>T
XM_024446540.1:c.*860A>T
XP_024302308.1:n.*860A>T
XM_024446541.1:c.*860A>T
XP_024302309.1:n.*860A>T
XM_024446542.1:c.*860A>T
XP_024302310.1:n.*860A>T
NM_001297652.2:c.*860A>T
NP_001284581.1:n.*860A>T
NM_001297653.2:c.*860A>T
NP_001284582.1:n.*860A>T
NM_001297654.2:c.*860A>T
MANE Select
NP_001284583.1:n.*860A>T
NM_001387892.1:c.*860A>T
NP_001374821.1:n.*860A>T
NM_001387893.1:c.*860A>T
NP_001374822.1:n.*860A>T
NM_001387894.1:c.*860A>T
NP_001374823.1:n.*860A>T
NM_001387895.1:c.*860A>T
NP_001374824.1:n.*860A>T
NM_001387896.1:c.*860A>T
NP_001374825.1:n.*860A>T
NM_001387897.1:c.*860A>T
NP_001374826.1:n.*860A>T
NM_001387898.1:c.*860A>T
NP_001374827.1:n.*860A>T
NM_001387899.1:c.*860A>T
NP_001374828.1:n.*860A>T
NM_001387900.1:c.*860A>T
NP_001374829.1:n.*860A>T
NM_001387901.1:c.*860A>T
NP_001374830.1:n.*860A>T
NM_001387902.1:c.*860A>T
NP_001374831.1:n.*860A>T
NM_001387903.1:c.*860A>T
NP_001374832.1:n.*860A>T
NM_001387904.1:c.*860A>T
NP_001374833.1:n.*860A>T
NM_001387905.1:c.*860A>T
NP_001374834.1:n.*860A>T
NM_001387906.1:c.*860A>T
NP_001374835.1:n.*860A>T
NM_001387907.1:c.*860A>T
NP_001374836.1:n.*860A>T
NM_001387908.1:c.*860A>T
NP_001374837.1:n.*860A>T
NM_001387909.1:c.*860A>T
NP_001374838.1:n.*860A>T
NM_001387910.1:c.*860A>T
NP_001374839.1:n.*860A>T
NM_001387911.1:c.*860A>T
NP_001374840.1:n.*860A>T
NM_001387912.1:c.*860A>T
NP_001374841.1:n.*860A>T
NM_001387913.1:c.*860A>T
NP_001374842.1:n.*860A>T
NM_001387914.1:c.*860A>T
NP_001374843.1:n.*860A>T
NM_001387915.1:c.*860A>T
NP_001374844.1:n.*860A>T
NM_001387916.1:c.*860A>T
NP_001374845.1:n.*860A>T
NM_001387917.1:c.*860A>T
NP_001374846.1:n.*860A>T
NM_001387918.1:c.*860A>T
NP_001374847.1:n.*860A>T
NM_001954.5:c.*860A>T
NP_001945.3:n.*860A>T
NM_013993.3:c.*860A>T
NP_054699.2:n.*860A>T
NM_013994.3:c.*860A>T
NP_054700.2:n.*860A>T