Canonical Allele Identifier: CA428872050

Gene: PROC

Linked Data

• dbSNP Id: rs121918141
• gnomAD v3: 2-127428602-C-A
• gnomAD v4: 2-127428602-C-A
• MyVariant Identifiers: chr2:g.128186178C>A (hg19) ; chr2:g.127428602C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428602C>A , CM000664.2:g.127428602C>A	GRCh38
NC_000002.11:g.128186178C>A , CM000664.1:g.128186178C>A	GRCh37
NC_000002.10:g.127902648C>A	NCBI36
NG_016323.1:g.15183C>A , LRG_599:g.15183C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000234071.8:c.1042C>A MANE Select	ENSP00000234071.4:p.Arg348=
ENST00000234071.7:c.1042C>A	ENSP00000234071.3:p.Arg348=
ENST00000402125.2:c.366C>A
ENST00000409048.1:c.1144C>A	ENSP00000386679.1:p.Arg382=
NM_000312.3:c.1042C>A , LRG_599t1:c.1042C>A	NP_000303.1:p.Arg348=
XM_005263715.3:c.1225C>A	XP_005263772.1:p.Arg409=
XM_005263716.3:c.1207C>A	XP_005263773.1:p.Arg403=
XM_005263717.3:c.1105C>A	XP_005263774.1:p.Arg369=
XR_923313.1:n.1332-338G>T
XM_005263717.4:c.1105C>A	XP_005263774.1:p.Arg369=
XM_017004505.1:c.1285C>A	XP_016859994.1:p.Arg429=
XM_024453002.1:c.1387C>A	XP_024308770.1:p.Arg463=
XM_024453003.1:c.1327C>A	XP_024308771.1:p.Arg443=
XM_024453004.1:c.1225C>A	XP_024308772.1:p.Arg409=
XM_024453005.1:c.1207C>A	XP_024308773.1:p.Arg403=
XM_024453006.1:c.1144C>A	XP_024308774.1:p.Arg382=
XR_001739705.1:n.3607-338G>T
XR_923313.2:n.4043-338G>T
NM_000312.4:c.1042C>A MANE Select	NP_000303.1:p.Arg348=
NM_001375602.1:c.1225C>A	NP_001362531.1:p.Arg409=
NM_001375603.1:c.1207C>A	NP_001362532.1:p.Arg403=
NM_001375604.1:c.1105C>A	NP_001362533.1:p.Arg369=
NM_001375605.1:c.1144C>A	NP_001362534.1:p.Arg382=
NM_001375606.1:c.1210C>A	NP_001362535.1:p.Arg404=
NM_001375607.1:c.1228C>A	NP_001362536.1:p.Arg410=
NM_001375608.1:c.985C>A	NP_001362537.1:p.Arg329=
NM_001375609.1:c.1018C>A	NP_001362538.1:p.Arg340=
NM_001375610.1:c.1036C>A	NP_001362539.1:p.Arg346=
NM_001375611.1:c.1042C>A	NP_001362540.1:p.Arg348=
NM_001375613.1:c.1042C>A	NP_001362542.1:p.Arg348=