Canonical Allele Identifier: CA1859498

Gene: PROC

Linked Data

• dbSNP Id: rs760435505
• ExAC: 2:128186120 C / T
• gnomAD v2: 2-128186120-C-T
• gnomAD v3: 2-127428544-C-T
• gnomAD v4: 2-127428544-C-T
• MyVariant Identifiers: chr2:g.128186120C>T (hg19) ; chr2:g.127428544C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428544C>T , CM000664.2:g.127428544C>T	GRCh38
NC_000002.11:g.128186120C>T , CM000664.1:g.128186120C>T	GRCh37
NC_000002.10:g.127902590C>T	NCBI36
NG_016323.1:g.15125C>T , LRG_599:g.15125C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.984C>T MANE Select	ENSP00000234071.4:p.Arg328=
ENST00000234071.7:c.984C>T	ENSP00000234071.3:p.Arg328=
ENST00000402125.2:c.308C>T
ENST00000409048.1:c.1086C>T	ENSP00000386679.1:p.Arg362=
NM_000312.3:c.984C>T , LRG_599t1:c.984C>T	NP_000303.1:p.Arg328=
XM_005263715.3:c.1167C>T	XP_005263772.1:p.Arg389=
XM_005263716.3:c.1149C>T	XP_005263773.1:p.Arg383=
XM_005263717.3:c.1047C>T	XP_005263774.1:p.Arg349=
XR_923313.1:n.1332-280G>A
XM_005263717.4:c.1047C>T	XP_005263774.1:p.Arg349=
XM_017004505.1:c.1227C>T	XP_016859994.1:p.Arg409=
XM_024453002.1:c.1329C>T	XP_024308770.1:p.Arg443=
XM_024453003.1:c.1269C>T	XP_024308771.1:p.Arg423=
XM_024453004.1:c.1167C>T	XP_024308772.1:p.Arg389=
XM_024453005.1:c.1149C>T	XP_024308773.1:p.Arg383=
XM_024453006.1:c.1086C>T	XP_024308774.1:p.Arg362=
XR_001739705.1:n.3607-280G>A
XR_923313.2:n.4043-280G>A
NM_000312.4:c.984C>T MANE Select	NP_000303.1:p.Arg328=
NM_001375602.1:c.1167C>T	NP_001362531.1:p.Arg389=
NM_001375603.1:c.1149C>T	NP_001362532.1:p.Arg383=
NM_001375604.1:c.1047C>T	NP_001362533.1:p.Arg349=
NM_001375605.1:c.1086C>T	NP_001362534.1:p.Arg362=
NM_001375606.1:c.1152C>T	NP_001362535.1:p.Arg384=
NM_001375607.1:c.1170C>T	NP_001362536.1:p.Arg390=
NM_001375608.1:c.927C>T	NP_001362537.1:p.Arg309=
NM_001375609.1:c.960C>T	NP_001362538.1:p.Arg320=
NM_001375610.1:c.978C>T	NP_001362539.1:p.Arg326=
NM_001375611.1:c.984C>T	NP_001362540.1:p.Arg328=
NM_001375613.1:c.984C>T	NP_001362542.1:p.Arg328=