×
Evidence Repository - SERVICE OUTAGE2026-04-17T09:00:00-0500 — 2026-04-22T17:00:00-0500 The Evidence Repository UI outage is being looked into. It appears to be an issue in the underlying API service, in particular unexpected elevated usage of an expensive matching and filtering request.
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.96131829G= , CM000669.2:g.96131829G=
GRCh38
NC_000007.13:g.95761141G= , CM000669.1:g.95761141G=
GRCh37
NC_000007.12:g.95599077G=
NCBI36
NG_012247.1:g.195319C=
NG_012247.2:g.195319C=
Transcript Alleles
HGVS
Amino-acid Change
NM_014251.3:c.1505C=
MANE Select
NP_055066.1:p.Pro502=
ENST00000265631.10:c.1505C=
MANE Select
ENSP00000265631.6:p.Pro502=
NM_001160210.1:c.1508C=
NP_001153682.1:p.Pro503=
NM_001160210.2:c.1508C=
NP_001153682.1:p.Pro503=
NM_014251.2:c.1505C=
NP_055066.1:p.Pro502=
NR_027662.1:n.1580C=
NR_027662.2:n.1531C=
ENST00000265631.9:c.1505C=
ENSP00000265631.5:p.Pro502=
ENST00000416240.6:c.1508C=
ENSP00000400101.2:p.Pro503=
XM_006715831.2:c.1538C=
XP_006715894.1:p.Pro513=
XM_006715831.4:c.1538C=
XP_006715894.1:p.Pro513=
XM_011515728.1:c.653C=
XP_011514030.1:p.Pro218=
XM_017011663.1:c.1496C=
XP_016867152.1:p.Pro499=
XM_017011664.2:c.653C=
XP_016867153.1:p.Pro218=
XM_017011665.1:c.653C=
XP_016867154.1:p.Pro218=
XR_001744525.2:n.1751C=
XR_002956405.1:n.2309C=