Canonical Allele Identifier: CA6909569
Gene: SGCG HGNC NCBI

Linked Data

ClinVar Variation Id: 1209788
ClinVar RCV Id: RCV001579124 RCV002275211
dbSNP Id: rs755404457
ExAC: 13:23777934 G / A
gnomAD v2: 13-23777934-G-A
gnomAD v3: 13-23203795-G-A
gnomAD v4: 13-23203795-G-A
COSMIC: COSM4636287
MyVariant Identifiers: chr13:g.23777934G>A (hg19) chr13:g.23203795G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23203795G>A , CM000675.2:g.23203795G>A GRCh38
NC_000013.10:g.23777934G>A , CM000675.1:g.23777934G>A GRCh37
NC_000013.9:g.22675934G>A NCBI36
NG_008759.1:g.27875G>A , LRG_207:g.27875G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000218867.4:c.101G>A MANE Select ENSP00000218867.3:p.Arg34His
ENST00000218867.3:c.101G>A ENSP00000218867.3:p.Arg34His
NM_000231.2:c.101G>A , LRG_207t1:c.101G>A NP_000222.1:p.Arg34His
XM_005266505.2:c.101G>A XP_005266562.1:p.Arg34His
XM_006719861.2:c.155G>A XP_006719924.1:p.Arg52His
XM_006719861.3:c.155G>A XP_006719924.1:p.Arg52His
XM_024449397.1:c.101G>A XP_024305165.1:p.Arg34His
NM_000231.3:c.101G>A MANE Select NP_000222.2:p.Arg34His
NM_001378244.1:c.155G>A NP_001365173.1:p.Arg52His
NM_001378245.1:c.101G>A NP_001365174.1:p.Arg34His
NM_001378246.1:c.101G>A NP_001365175.1:p.Arg34His
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