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SERVICES INTERRUPTION:2026-08-07T10:00:00-0500 — 2026-08-14T18:00:00-0500 Allele Registry, ERepo, and Actionability UI services may experience intermittent service interruptions during this period.
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.154576245T>G , CM000663.2:g.154576245T>G
GRCh38
NC_000001.10:g.154548721T>G , CM000663.1:g.154548721T>G
GRCh37
NC_000001.9:g.152815345T>G
NCBI36
NG_008027.1:g.13465T>G
Transcript Alleles
HGVS
Amino-acid Change
NM_000748.3:c.*313T>G
MANE Select
NP_000739.1:n.*313T>G
ENST00000368476.4:c.*313T>G
MANE Select
ENSP00000357461.3:n.*313T>G
NM_000748.2:c.*313T>G
NP_000739.1:n.*313T>G
ENST00000368476.3:c.*313T>G
ENSP00000357461.3:n.*313T>G
ENST00000636034.1:c.1505+317T>G
ENSP00000489703.1:n.1505+317T>G
ENST00000637900.1:c.*313T>G
ENSP00000490474.1:n.*313T>G
XM_017000180.2:c.*313T>G
XP_016855669.1:n.*313T>G
XR_001736952.2:n.2074T>G