Canonical Allele Identifier: CA428873443
Gene: PROC HGNC NCBI

Linked Data

dbSNP Id: rs1688694165
MyVariant Identifiers: chr2:g.128186306C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.127428730C>A , CM000664.2:g.127428730C>A GRCh38
NC_000002.11:g.128186306C>A , CM000664.1:g.128186306C>A GRCh37
NC_000002.10:g.127902776C>A NCBI36
NG_016323.1:g.15311C>A , LRG_599:g.15311C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000234071.8:c.1170C>A MANE Select ENSP00000234071.4:p.Ile390=
ENST00000234071.7:c.1170C>A ENSP00000234071.3:p.Ile390=
ENST00000402125.2:c.494C>A
ENST00000409048.1:c.1272C>A ENSP00000386679.1:p.Ile424=
NM_000312.3:c.1170C>A , LRG_599t1:c.1170C>A NP_000303.1:p.Ile390=
XM_005263715.3:c.1353C>A XP_005263772.1:p.Ile451=
XM_005263716.3:c.1335C>A XP_005263773.1:p.Ile445=
XM_005263717.3:c.1233C>A XP_005263774.1:p.Ile411=
XR_923313.1:n.1332-466G>T
XM_005263717.4:c.1233C>A XP_005263774.1:p.Ile411=
XM_017004505.1:c.1413C>A XP_016859994.1:p.Ile471=
XM_024453002.1:c.1515C>A XP_024308770.1:p.Ile505=
XM_024453003.1:c.1455C>A XP_024308771.1:p.Ile485=
XM_024453004.1:c.1353C>A XP_024308772.1:p.Ile451=
XM_024453005.1:c.1335C>A XP_024308773.1:p.Ile445=
XM_024453006.1:c.1272C>A XP_024308774.1:p.Ile424=
XR_001739705.1:n.3607-466G>T
XR_923313.2:n.4043-466G>T
NM_000312.4:c.1170C>A MANE Select NP_000303.1:p.Ile390=
NM_001375602.1:c.1353C>A NP_001362531.1:p.Ile451=
NM_001375603.1:c.1335C>A NP_001362532.1:p.Ile445=
NM_001375604.1:c.1233C>A NP_001362533.1:p.Ile411=
NM_001375605.1:c.1272C>A NP_001362534.1:p.Ile424=
NM_001375606.1:c.1338C>A NP_001362535.1:p.Ile446=
NM_001375607.1:c.1356C>A NP_001362536.1:p.Ile452=
NM_001375608.1:c.1113C>A NP_001362537.1:p.Ile371=
NM_001375609.1:c.1146C>A NP_001362538.1:p.Ile382=
NM_001375610.1:c.1164C>A NP_001362539.1:p.Ile388=
NM_001375611.1:c.1170C>A NP_001362540.1:p.Ile390=
NM_001375613.1:c.1170C>A NP_001362542.1:p.Ile390=