Canonical Allele Identifier: CA348406513
Gene: PROC HGNC NCBI

Linked Data

ClinVar Variation Id: 1300143
ClinVar RCV Id: RCV001731126
dbSNP Id: rs1688706297

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.127428827G>A , CM000664.2:g.127428827G>A GRCh38
NC_000002.11:g.128186403G>A , CM000664.1:g.128186403G>A GRCh37
NC_000002.10:g.127902873G>A NCBI36
NG_016323.1:g.15408G>A , LRG_599:g.15408G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000234071.8:c.1267G>A MANE Select ENSP00000234071.4:p.Gly423Ser
ENST00000234071.7:c.1267G>A ENSP00000234071.3:p.Gly423Ser
ENST00000402125.2:c.591G>A
ENST00000409048.1:c.1369G>A ENSP00000386679.1:p.Gly457Ser
NM_000312.3:c.1267G>A , LRG_599t1:c.1267G>A NP_000303.1:p.Gly423Ser
XM_005263715.3:c.1450G>A XP_005263772.1:p.Gly484Ser
XM_005263716.3:c.1432G>A XP_005263773.1:p.Gly478Ser
XM_005263717.3:c.1330G>A XP_005263774.1:p.Gly444Ser
XR_923313.1:n.1332-563C>T
XM_005263717.4:c.1330G>A XP_005263774.1:p.Gly444Ser
XM_017004505.1:c.1510G>A XP_016859994.1:p.Gly504Ser
XM_024453002.1:c.1612G>A XP_024308770.1:p.Gly538Ser
XM_024453003.1:c.1552G>A XP_024308771.1:p.Gly518Ser
XM_024453004.1:c.1450G>A XP_024308772.1:p.Gly484Ser
XM_024453005.1:c.1432G>A XP_024308773.1:p.Gly478Ser
XM_024453006.1:c.1369G>A XP_024308774.1:p.Gly457Ser
XR_001739705.1:n.3607-563C>T
XR_923313.2:n.4043-563C>T
NM_000312.4:c.1267G>A MANE Select NP_000303.1:p.Gly423Ser
NM_001375602.1:c.1450G>A NP_001362531.1:p.Gly484Ser
NM_001375603.1:c.1432G>A NP_001362532.1:p.Gly478Ser
NM_001375604.1:c.1330G>A NP_001362533.1:p.Gly444Ser
NM_001375605.1:c.1369G>A NP_001362534.1:p.Gly457Ser
NM_001375606.1:c.1435G>A NP_001362535.1:p.Gly479Ser
NM_001375607.1:c.1453G>A NP_001362536.1:p.Gly485Ser
NM_001375608.1:c.1210G>A NP_001362537.1:p.Gly404Ser
NM_001375609.1:c.1243G>A NP_001362538.1:p.Gly415Ser
NM_001375610.1:c.1261G>A NP_001362539.1:p.Gly421Ser
NM_001375611.1:c.1267G>A NP_001362540.1:p.Gly423Ser
NM_001375613.1:c.1267G>A NP_001362542.1:p.Gly423Ser