Canonical Allele Identifier: CA348406097
Gene: PROC HGNC NCBI

Linked Data

ClinVar Variation Id: 623192
ClinVar RCV Id: RCV000761311
dbSNP Id: rs1305782685

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.127428726G>C , CM000664.2:g.127428726G>C GRCh38
NC_000002.11:g.128186302G>C , CM000664.1:g.128186302G>C GRCh37
NC_000002.10:g.127902772G>C NCBI36
NG_016323.1:g.15307G>C , LRG_599:g.15307G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000234071.8:c.1166G>C MANE Select ENSP00000234071.4:p.Gly389Ala
ENST00000234071.7:c.1166G>C ENSP00000234071.3:p.Gly389Ala
ENST00000402125.2:c.490G>C
ENST00000409048.1:c.1268G>C ENSP00000386679.1:p.Gly423Ala
NM_000312.3:c.1166G>C , LRG_599t1:c.1166G>C NP_000303.1:p.Gly389Ala
XM_005263715.3:c.1349G>C XP_005263772.1:p.Gly450Ala
XM_005263716.3:c.1331G>C XP_005263773.1:p.Gly444Ala
XM_005263717.3:c.1229G>C XP_005263774.1:p.Gly410Ala
XR_923313.1:n.1332-462C>G
XM_005263717.4:c.1229G>C XP_005263774.1:p.Gly410Ala
XM_017004505.1:c.1409G>C XP_016859994.1:p.Gly470Ala
XM_024453002.1:c.1511G>C XP_024308770.1:p.Gly504Ala
XM_024453003.1:c.1451G>C XP_024308771.1:p.Gly484Ala
XM_024453004.1:c.1349G>C XP_024308772.1:p.Gly450Ala
XM_024453005.1:c.1331G>C XP_024308773.1:p.Gly444Ala
XM_024453006.1:c.1268G>C XP_024308774.1:p.Gly423Ala
XR_001739705.1:n.3607-462C>G
XR_923313.2:n.4043-462C>G
NM_000312.4:c.1166G>C MANE Select NP_000303.1:p.Gly389Ala
NM_001375602.1:c.1349G>C NP_001362531.1:p.Gly450Ala
NM_001375603.1:c.1331G>C NP_001362532.1:p.Gly444Ala
NM_001375604.1:c.1229G>C NP_001362533.1:p.Gly410Ala
NM_001375605.1:c.1268G>C NP_001362534.1:p.Gly423Ala
NM_001375606.1:c.1334G>C NP_001362535.1:p.Gly445Ala
NM_001375607.1:c.1352G>C NP_001362536.1:p.Gly451Ala
NM_001375608.1:c.1109G>C NP_001362537.1:p.Gly370Ala
NM_001375609.1:c.1142G>C NP_001362538.1:p.Gly381Ala
NM_001375610.1:c.1160G>C NP_001362539.1:p.Gly387Ala
NM_001375611.1:c.1166G>C NP_001362540.1:p.Gly389Ala
NM_001375613.1:c.1166G>C NP_001362542.1:p.Gly389Ala