Canonical Allele Identifier: CA246551
Gene: SGCB HGNC NCBI

Linked Data

ClinVar Variation Id: 198061
ClinVar RCV Id: RCV000179276
dbSNP Id: rs776593068
ExAC: 4:52890167 T / C
gnomAD v2: 4-52890167-T-C
gnomAD v3: 4-52024001-T-C
gnomAD v4: 4-52024001-T-C
MyVariant Identifiers: chr4:g.52890167T>C (hg19) chr4:g.52024001T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52024001T>C , CM000666.2:g.52024001T>C GRCh38
NC_000004.11:g.52890167T>C , CM000666.1:g.52890167T>C GRCh37
NC_000004.10:g.52584924T>C NCBI36
NG_008891.1:g.19319A>G , LRG_204:g.19319A>G
NG_053164.1:g.1311A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.913A>G MANE Select ENSP00000370839.6:p.Met305Val
ENST00000381431.9:c.913A>G ENSP00000370839.5:p.Met305Val
NM_000232.4:c.913A>G , LRG_204t1:c.913A>G NP_000223.1:p.Met305Val
XM_006714049.2:c.616A>G XP_006714112.1:p.Met206Val
XM_011534403.1:c.703A>G XP_011532705.1:p.Met235Val
XM_011534404.1:c.616A>G XP_011532706.1:p.Met206Val
NM_000232.5:c.913A>G MANE Select NP_000223.1:p.Met305Val
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