Canonical Allele Identifier: CA356878730
Gene: SGCB HGNC NCBI

Linked Data

ClinVar Variation Id: 862654
ClinVar RCV Id: RCV001069412
dbSNP Id: rs1737457235
gnomAD v4: 4-52038258-A-G
MyVariant Identifiers: chr4:g.52904424A>G (hg19) chr4:g.52038258A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52038258A>G , CM000666.2:g.52038258A>G GRCh38
NC_000004.11:g.52904424A>G , CM000666.1:g.52904424A>G GRCh37
NC_000004.10:g.52599181A>G NCBI36
NG_008891.1:g.5062T>C , LRG_204:g.5062T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000381431.10:c.2T>C MANE Select ENSP00000370839.6:p.Met1Thr
ENST00000381431.9:c.2T>C ENSP00000370839.5:p.Met1Thr
NM_000232.4:c.2T>C , LRG_204t1:c.2T>C NP_000223.1:p.Met1Thr
XM_011534403.1:c.2T>C XP_011532705.1:p.Met1Thr
NM_000232.5:c.2T>C MANE Select NP_000223.1:p.Met1Thr
Search 100 bp 5'
Search 100 bp 3'