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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_000011.10:g.6394948A>C , CM000673.2:g.6394948A>C
GRCh38
NC_000011.9:g.6416178A>C , CM000673.1:g.6416178A>C
GRCh37
NC_000011.8:g.6372754A>C
NCBI36
NG_011780.1:g.9524A>C
NG_029615.1:g.29467T>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000342245.9:c.*341A>C
MANE Select
ENSP00000340409.4:n.*341A>C
ENST00000342245.8:c.*341A>C
ENSP00000340409.4:n.*341A>C
ENST00000526280.1:c.1294A>C
ENST00000533123.5:c.*964A>C
ENSP00000435950.1:n.*964A>C
ENST00000534405.5:c.*1068A>C
ENSP00000434353.1:n.*1068A>C
NM_000543.4:c.*341A>C
NP_000534.3:n.*341A>C
NM_001007593.2:c.*341A>C
NP_001007594.2:n.*341A>C
XM_011520303.1:c.*341A>C
XP_011518605.1:n.*341A>C
NM_001318087.1:c.*730A>C
NP_001305016.1:n.*730A>C
NM_001318088.1:c.*341A>C
NP_001305017.1:n.*341A>C
NM_001365135.1:c.*341A>C
NP_001352064.1:n.*341A>C
NR_027400.2:n.2250A>C
NR_134502.1:n.1789A>C
XR_001747940.2:n.2422A>C
XR_002957158.1:n.2604A>C
NM_000543.5:c.*341A>C
MANE Select
NP_000534.3:n.*341A>C
NM_001007593.3:c.*341A>C
NP_001007594.2:n.*341A>C
NM_001318087.2:c.*730A>C
NP_001305016.1:n.*730A>C
NM_001318088.2:c.*341A>C
NP_001305017.1:n.*341A>C
NM_001365135.2:c.*341A>C
NP_001352064.1:n.*341A>C
NR_027400.3:n.2190A>C
NR_134502.2:n.1729A>C