Canonical Allele Identifier: CA348406070
Gene: PROC HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.128186296G>C (hg19) chr2:g.127428720G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.127428720G>C , CM000664.2:g.127428720G>C GRCh38
NC_000002.11:g.128186296G>C , CM000664.1:g.128186296G>C GRCh37
NC_000002.10:g.127902766G>C NCBI36
NG_016323.1:g.15301G>C , LRG_599:g.15301G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000234071.8:c.1160G>C MANE Select ENSP00000234071.4:p.Cys387Ser
ENST00000234071.7:c.1160G>C ENSP00000234071.3:p.Cys387Ser
ENST00000402125.2:c.484G>C
ENST00000409048.1:c.1262G>C ENSP00000386679.1:p.Cys421Ser
NM_000312.3:c.1160G>C , LRG_599t1:c.1160G>C NP_000303.1:p.Cys387Ser
XM_005263715.3:c.1343G>C XP_005263772.1:p.Cys448Ser
XM_005263716.3:c.1325G>C XP_005263773.1:p.Cys442Ser
XM_005263717.3:c.1223G>C XP_005263774.1:p.Cys408Ser
XR_923313.1:n.1332-456C>G
XM_005263717.4:c.1223G>C XP_005263774.1:p.Cys408Ser
XM_017004505.1:c.1403G>C XP_016859994.1:p.Cys468Ser
XM_024453002.1:c.1505G>C XP_024308770.1:p.Cys502Ser
XM_024453003.1:c.1445G>C XP_024308771.1:p.Cys482Ser
XM_024453004.1:c.1343G>C XP_024308772.1:p.Cys448Ser
XM_024453005.1:c.1325G>C XP_024308773.1:p.Cys442Ser
XM_024453006.1:c.1262G>C XP_024308774.1:p.Cys421Ser
XR_001739705.1:n.3607-456C>G
XR_923313.2:n.4043-456C>G
NM_000312.4:c.1160G>C MANE Select NP_000303.1:p.Cys387Ser
NM_001375602.1:c.1343G>C NP_001362531.1:p.Cys448Ser
NM_001375603.1:c.1325G>C NP_001362532.1:p.Cys442Ser
NM_001375604.1:c.1223G>C NP_001362533.1:p.Cys408Ser
NM_001375605.1:c.1262G>C NP_001362534.1:p.Cys421Ser
NM_001375606.1:c.1328G>C NP_001362535.1:p.Cys443Ser
NM_001375607.1:c.1346G>C NP_001362536.1:p.Cys449Ser
NM_001375608.1:c.1103G>C NP_001362537.1:p.Cys368Ser
NM_001375609.1:c.1136G>C NP_001362538.1:p.Cys379Ser
NM_001375610.1:c.1154G>C NP_001362539.1:p.Cys385Ser
NM_001375611.1:c.1160G>C NP_001362540.1:p.Cys387Ser
NM_001375613.1:c.1160G>C NP_001362542.1:p.Cys387Ser
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