Canonical Allele Identifier: CA348406192

Gene: PROC

Linked Data

• dbSNP Id: rs1439742162
• gnomAD v4: 2-127428752-T-C
• MyVariant Identifiers: chr2:g.128186328T>C (hg19) ; chr2:g.127428752T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428752T>C , CM000664.2:g.127428752T>C	GRCh38
NC_000002.11:g.128186328T>C , CM000664.1:g.128186328T>C	GRCh37
NC_000002.10:g.127902798T>C	NCBI36
NG_016323.1:g.15333T>C , LRG_599:g.15333T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.1192T>C MANE Select	ENSP00000234071.4:p.Cys398Arg
ENST00000234071.7:c.1192T>C	ENSP00000234071.3:p.Cys398Arg
ENST00000402125.2:c.516T>C
ENST00000409048.1:c.1294T>C	ENSP00000386679.1:p.Cys432Arg
NM_000312.3:c.1192T>C , LRG_599t1:c.1192T>C	NP_000303.1:p.Cys398Arg
XM_005263715.3:c.1375T>C	XP_005263772.1:p.Cys459Arg
XM_005263716.3:c.1357T>C	XP_005263773.1:p.Cys453Arg
XM_005263717.3:c.1255T>C	XP_005263774.1:p.Cys419Arg
XR_923313.1:n.1332-488A>G
XM_005263717.4:c.1255T>C	XP_005263774.1:p.Cys419Arg
XM_017004505.1:c.1435T>C	XP_016859994.1:p.Cys479Arg
XM_024453002.1:c.1537T>C	XP_024308770.1:p.Cys513Arg
XM_024453003.1:c.1477T>C	XP_024308771.1:p.Cys493Arg
XM_024453004.1:c.1375T>C	XP_024308772.1:p.Cys459Arg
XM_024453005.1:c.1357T>C	XP_024308773.1:p.Cys453Arg
XM_024453006.1:c.1294T>C	XP_024308774.1:p.Cys432Arg
XR_001739705.1:n.3607-488A>G
XR_923313.2:n.4043-488A>G
NM_000312.4:c.1192T>C MANE Select	NP_000303.1:p.Cys398Arg
NM_001375602.1:c.1375T>C	NP_001362531.1:p.Cys459Arg
NM_001375603.1:c.1357T>C	NP_001362532.1:p.Cys453Arg
NM_001375604.1:c.1255T>C	NP_001362533.1:p.Cys419Arg
NM_001375605.1:c.1294T>C	NP_001362534.1:p.Cys432Arg
NM_001375606.1:c.1360T>C	NP_001362535.1:p.Cys454Arg
NM_001375607.1:c.1378T>C	NP_001362536.1:p.Cys460Arg
NM_001375608.1:c.1135T>C	NP_001362537.1:p.Cys379Arg
NM_001375609.1:c.1168T>C	NP_001362538.1:p.Cys390Arg
NM_001375610.1:c.1186T>C	NP_001362539.1:p.Cys396Arg
NM_001375611.1:c.1192T>C	NP_001362540.1:p.Cys398Arg
NM_001375613.1:c.1192T>C	NP_001362542.1:p.Cys398Arg