×
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_000010.11:g.122432838C= , CM000672.2:g.122432838C=
GRCh38
NC_000010.10:g.124192354C= , CM000672.1:g.124192354C=
GRCh37
NC_000010.9:g.124182344C=
NCBI36
NG_027823.1:g.63261C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000368990.7:c.*2900C=
ENSP00000357986.3:n.*2900C=
NM_001001974.3:c.*2900C=
NP_001001974.1:n.*2900C=
NM_001195608.2:c.*3255C=
NP_001182537.1:n.*3255C=
NM_001330178.2:c.*3004C=
NP_001317107.1:n.*3004C=
NM_001377230.1:c.*2900C=
NP_001364159.1:n.*2900C=
NM_001377231.1:c.*2900C=
NP_001364160.1:n.*2900C=
NM_001377232.1:c.*2900C=
NP_001364161.1:n.*2900C=
NM_001377234.1:c.*2900C=
NP_001364163.1:n.*2900C=
NM_001377235.1:c.*2900C=
NP_001364164.1:n.*2900C=
NM_001377237.1:c.*3255C=
NP_001364166.1:n.*3255C=
NM_001377238.1:c.*3255C=
NP_001364167.1:n.*3255C=
NM_001377240.1:c.*3004C=
NP_001364169.1:n.*3004C=
NM_001377241.1:c.*3004C=
NP_001364170.1:n.*3004C=
NM_001377242.1:c.*3004C=
NP_001364171.1:n.*3004C=
NM_001377243.1:c.*3004C=
NP_001364172.1:n.*3004C=
NM_001377244.1:c.*3004C=
NP_001364173.1:n.*3004C=
NM_001377245.1:c.*3004C=
NP_001364174.1:n.*3004C=
NM_001377246.1:c.*3004C=
NP_001364175.1:n.*3004C=
NM_001377247.1:c.*2900C=
NP_001364176.1:n.*2900C=
NM_001377248.1:c.*3004C=
NP_001364177.1:n.*3004C=
NM_001377249.1:c.*2900C=
NP_001364178.1:n.*2900C=
NM_001377250.1:c.*3004C=
NP_001364179.1:n.*3004C=
NM_001377251.1:c.*3004C=
NP_001364180.1:n.*3004C=
NM_001377252.1:c.*2900C=
NP_001364181.1:n.*2900C=
NM_001377253.1:c.*2900C=
NP_001364182.1:n.*2900C=
NM_001377254.1:c.*2900C=
NP_001364183.1:n.*2900C=
NM_001377255.1:c.*3004C=
NP_001364184.1:n.*3004C=
NM_001377256.1:c.*3004C=
NP_001364185.1:n.*3004C=
NM_001377257.1:c.*3004C=
NP_001364186.1:n.*3004C=
NM_001377258.1:c.*3247C=
NP_001364187.1:n.*3247C=
NM_021622.5:c.*2900C=
NP_067635.2:n.*2900C=
NR_165160.1:n.4393C=
NR_165161.1:n.4341C=
NR_165162.1:n.4206C=
NR_165164.1:n.4258C=
NR_165165.1:n.4352C=