Canonical Allele Identifier: CA348398122
Gene: PROC HGNC NCBI

Linked Data

ClinVar Variation Id: 623191
ClinVar RCV Id: RCV000761310
dbSNP Id: rs1448630830

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.127421411G>A , CM000664.2:g.127421411G>A GRCh38
NC_000002.11:g.128178987G>A , CM000664.1:g.128178987G>A GRCh37
NC_000002.10:g.127895457G>A NCBI36
NG_016323.1:g.7992G>A , LRG_599:g.7992G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000234071.8:c.199G>A MANE Select ENSP00000234071.4:p.Glu67Lys
ENST00000234071.7:c.199G>A ENSP00000234071.3:p.Glu67Lys
ENST00000409048.1:c.199G>A ENSP00000386679.1:p.Glu67Lys
ENST00000419985.5:c.*5G>A ENSP00000392606.1:n.*5G>A
ENST00000427769.5:c.199G>A ENSP00000406295.1:p.Glu67Lys
ENST00000429925.5:c.199G>A ENSP00000412697.1:p.Glu67Lys
ENST00000431364.1:c.*5G>A ENSP00000391220.1:n.*5G>A
ENST00000442644.5:c.199G>A ENSP00000411241.1:p.Glu67Lys
ENST00000474030.5:n.282G>A
NM_000312.3:c.199G>A , LRG_599t1:c.199G>A NP_000303.1:p.Glu67Lys
XM_005263715.3:c.382G>A XP_005263772.1:p.Glu128Lys
XM_005263716.3:c.262G>A XP_005263773.1:p.Glu88Lys
XM_005263717.3:c.262G>A XP_005263774.1:p.Glu88Lys
XM_005263717.4:c.262G>A XP_005263774.1:p.Glu88Lys
XM_017004505.1:c.442G>A XP_016859994.1:p.Glu148Lys
XM_024453002.1:c.442G>A XP_024308770.1:p.Glu148Lys
XM_024453003.1:c.382G>A XP_024308771.1:p.Glu128Lys
XM_024453004.1:c.382G>A XP_024308772.1:p.Glu128Lys
XM_024453005.1:c.262G>A XP_024308773.1:p.Glu88Lys
XM_024453006.1:c.199G>A XP_024308774.1:p.Glu67Lys
NM_000312.4:c.199G>A MANE Select NP_000303.1:p.Glu67Lys
NM_001375602.1:c.382G>A NP_001362531.1:p.Glu128Lys
NM_001375603.1:c.262G>A NP_001362532.1:p.Glu88Lys
NM_001375604.1:c.262G>A NP_001362533.1:p.Glu88Lys
NM_001375605.1:c.199G>A NP_001362534.1:p.Glu67Lys
NM_001375606.1:c.262G>A NP_001362535.1:p.Glu88Lys
NM_001375607.1:c.283G>A NP_001362536.1:p.Glu95Lys
NM_001375608.1:c.199G>A NP_001362537.1:p.Glu67Lys
NM_001375609.1:c.175G>A NP_001362538.1:p.Glu59Lys
NM_001375610.1:c.193G>A NP_001362539.1:p.Glu65Lys
NM_001375611.1:c.199G>A NP_001362540.1:p.Glu67Lys
NM_001375613.1:c.199G>A NP_001362542.1:p.Glu67Lys