Canonical Allele Identifier: CA2918367
Gene: SGCB HGNC NCBI

Linked Data

ClinVar Variation Id: 466604
ClinVar RCV Id: RCV000544134
dbSNP Id: rs751427686
ExAC: 4:52894973 T / G
gnomAD v2: 4-52894973-T-G
gnomAD v4: 4-52028807-T-G
MyVariant Identifiers: chr4:g.52894973T>G (hg19) chr4:g.52028807T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52028807T>G , CM000666.2:g.52028807T>G GRCh38
NC_000004.11:g.52894973T>G , CM000666.1:g.52894973T>G GRCh37
NC_000004.10:g.52589730T>G NCBI36
NG_008891.1:g.14513A>C , LRG_204:g.14513A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000381431.10:c.544A>C MANE Select ENSP00000370839.6:p.Thr182Pro
ENST00000381431.9:c.544A>C ENSP00000370839.5:p.Thr182Pro
ENST00000506357.5:c.627A>C
NM_000232.4:c.544A>C , LRG_204t1:c.544A>C NP_000223.1:p.Thr182Pro
XM_006714049.2:c.247A>C XP_006714112.1:p.Thr83Pro
XM_011534403.1:c.334A>C XP_011532705.1:p.Thr112Pro
XM_011534404.1:c.247A>C XP_011532706.1:p.Thr83Pro
NM_000232.5:c.544A>C MANE Select NP_000223.1:p.Thr182Pro
Search 100 bp 5'
Search 100 bp 3'