Canonical Allele Identifier: CA114414

Gene: PROC

Linked Data

• ClinVar Variation Id: 671
• ClinVar RCV Id: RCV000000706 ; RCV000852227
• dbSNP Id: rs121918154
• ExAC: 2:128185950 C / T
• gnomAD v2: 2-128185950-C-T
• gnomAD v3: 2-127428374-C-T
• gnomAD v4: 2-127428374-C-T
• COSMIC: COSM1006209
• MyVariant Identifiers: chr2:g.128185950C>T (hg19) ; chr2:g.127428374C>T (hg38)
• PubMed: PMID:1868249 ; PMID:8093743

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428374C>T , CM000664.2:g.127428374C>T	GRCh38
NC_000002.11:g.128185950C>T , CM000664.1:g.128185950C>T	GRCh37
NC_000002.10:g.127902420C>T	NCBI36
NG_016323.1:g.14955C>T , LRG_599:g.14955C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.814C>T MANE Select	ENSP00000234071.4:p.Arg272Cys
ENST00000234071.7:c.814C>T	ENSP00000234071.3:p.Arg272Cys
ENST00000402125.2:c.138C>T
ENST00000409048.1:c.916C>T	ENSP00000386679.1:p.Arg306Cys
NM_000312.3:c.814C>T , LRG_599t1:c.814C>T	NP_000303.1:p.Arg272Cys
XM_005263715.3:c.997C>T	XP_005263772.1:p.Arg333Cys
XM_005263716.3:c.979C>T	XP_005263773.1:p.Arg327Cys
XM_005263717.3:c.877C>T	XP_005263774.1:p.Arg293Cys
XR_923313.1:n.1332-110G>A
XM_005263717.4:c.877C>T	XP_005263774.1:p.Arg293Cys
XM_017004505.1:c.1057C>T	XP_016859994.1:p.Arg353Cys
XM_024453002.1:c.1159C>T	XP_024308770.1:p.Arg387Cys
XM_024453003.1:c.1099C>T	XP_024308771.1:p.Arg367Cys
XM_024453004.1:c.997C>T	XP_024308772.1:p.Arg333Cys
XM_024453005.1:c.979C>T	XP_024308773.1:p.Arg327Cys
XM_024453006.1:c.916C>T	XP_024308774.1:p.Arg306Cys
XR_001739705.1:n.3607-110G>A
XR_923313.2:n.4043-110G>A
NM_000312.4:c.814C>T MANE Select	NP_000303.1:p.Arg272Cys
NM_001375602.1:c.997C>T	NP_001362531.1:p.Arg333Cys
NM_001375603.1:c.979C>T	NP_001362532.1:p.Arg327Cys
NM_001375604.1:c.877C>T	NP_001362533.1:p.Arg293Cys
NM_001375605.1:c.916C>T	NP_001362534.1:p.Arg306Cys
NM_001375606.1:c.982C>T	NP_001362535.1:p.Arg328Cys
NM_001375607.1:c.1000C>T	NP_001362536.1:p.Arg334Cys
NM_001375608.1:c.757C>T	NP_001362537.1:p.Arg253Cys
NM_001375609.1:c.790C>T	NP_001362538.1:p.Arg264Cys
NM_001375610.1:c.808C>T	NP_001362539.1:p.Arg270Cys
NM_001375611.1:c.814C>T	NP_001362540.1:p.Arg272Cys
NM_001375613.1:c.814C>T	NP_001362542.1:p.Arg272Cys