Canonical Allele Identifier: CA348405226

Gene: PROC

Linked Data

• ClinVar Variation Id: 1330288
• ClinVar RCV Id: RCV001801320
• dbSNP Id: rs1688677671
• gnomAD v4: 2-127428543-G-A
• MyVariant Identifiers: chr2:g.128186119G>A (hg19) ; chr2:g.127428543G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428543G>A , CM000664.2:g.127428543G>A	GRCh38
NC_000002.11:g.128186119G>A , CM000664.1:g.128186119G>A	GRCh37
NC_000002.10:g.127902589G>A	NCBI36
NG_016323.1:g.15124G>A , LRG_599:g.15124G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.983G>A MANE Select	ENSP00000234071.4:p.Arg328His
ENST00000234071.7:c.983G>A	ENSP00000234071.3:p.Arg328His
ENST00000402125.2:c.307G>A
ENST00000409048.1:c.1085G>A	ENSP00000386679.1:p.Arg362His
NM_000312.3:c.983G>A , LRG_599t1:c.983G>A	NP_000303.1:p.Arg328His
XM_005263715.3:c.1166G>A	XP_005263772.1:p.Arg389His
XM_005263716.3:c.1148G>A	XP_005263773.1:p.Arg383His
XM_005263717.3:c.1046G>A	XP_005263774.1:p.Arg349His
XR_923313.1:n.1332-279C>T
XM_005263717.4:c.1046G>A	XP_005263774.1:p.Arg349His
XM_017004505.1:c.1226G>A	XP_016859994.1:p.Arg409His
XM_024453002.1:c.1328G>A	XP_024308770.1:p.Arg443His
XM_024453003.1:c.1268G>A	XP_024308771.1:p.Arg423His
XM_024453004.1:c.1166G>A	XP_024308772.1:p.Arg389His
XM_024453005.1:c.1148G>A	XP_024308773.1:p.Arg383His
XM_024453006.1:c.1085G>A	XP_024308774.1:p.Arg362His
XR_001739705.1:n.3607-279C>T
XR_923313.2:n.4043-279C>T
NM_000312.4:c.983G>A MANE Select	NP_000303.1:p.Arg328His
NM_001375602.1:c.1166G>A	NP_001362531.1:p.Arg389His
NM_001375603.1:c.1148G>A	NP_001362532.1:p.Arg383His
NM_001375604.1:c.1046G>A	NP_001362533.1:p.Arg349His
NM_001375605.1:c.1085G>A	NP_001362534.1:p.Arg362His
NM_001375606.1:c.1151G>A	NP_001362535.1:p.Arg384His
NM_001375607.1:c.1169G>A	NP_001362536.1:p.Arg390His
NM_001375608.1:c.926G>A	NP_001362537.1:p.Arg309His
NM_001375609.1:c.959G>A	NP_001362538.1:p.Arg320His
NM_001375610.1:c.977G>A	NP_001362539.1:p.Arg326His
NM_001375611.1:c.983G>A	NP_001362540.1:p.Arg328His
NM_001375613.1:c.983G>A	NP_001362542.1:p.Arg328His