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INTERRUPTION NOTICE:2025-11-04T19:00:00-0500 — 2025-11-14T08:00:00-0500 We are currently experiencing disruptions with our internal data streaming service which are affecting data exchange across multiple applications causing delay in real-time message broadcasting and notifications.
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.96120621C>T , CM000669.2:g.96120621C>T
GRCh38
NC_000007.13:g.95749933C>T , CM000669.1:g.95749933C>T
GRCh37
NC_000007.12:g.95587869C>T
NCBI36
NG_012247.1:g.206527G>A
NG_012247.2:g.206527G>A
Transcript Alleles
HGVS
Amino-acid Change
NM_014251.3:c.*570G>A
MANE Select
NP_055066.1:n.*570G>A
ENST00000265631.10:c.*570G>A
MANE Select
ENSP00000265631.6:n.*570G>A
NM_001160210.1:c.*570G>A
NP_001153682.1:n.*570G>A
NM_001160210.2:c.*570G>A
NP_001153682.1:n.*570G>A
NM_014251.2:c.*570G>A
NP_055066.1:n.*570G>A
NR_027662.1:n.2673G>A
NR_027662.2:n.2624G>A
ENST00000265631.9:c.*570G>A
ENSP00000265631.5:n.*570G>A
ENST00000416240.6:c.*570G>A
ENSP00000400101.2:n.*570G>A
XM_006715831.2:c.*570G>A
XP_006715894.1:n.*570G>A
XM_006715831.4:c.*570G>A
XP_006715894.1:n.*570G>A
XM_011515728.1:c.*570G>A
XP_011514030.1:n.*570G>A
XM_017011663.1:c.*570G>A
XP_016867152.1:n.*570G>A
XM_017011664.2:c.*570G>A
XP_016867153.1:n.*570G>A
XM_017011665.1:c.*570G>A
XP_016867154.1:n.*570G>A
XR_001744525.2:n.2844G>A
XR_002956405.1:n.3402G>A