Canonical Allele Identifier: CA2918319
Gene: SGCB HGNC NCBI

Linked Data

dbSNP Id: rs751843894
ExAC: 4:52894203 T / C
gnomAD v2: 4-52894203-T-C
gnomAD v4: 4-52028037-T-C
MyVariant Identifiers: chr4:g.52894203T>C (hg19) chr4:g.52028037T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52028037T>C , CM000666.2:g.52028037T>C GRCh38
NC_000004.11:g.52894203T>C , CM000666.1:g.52894203T>C GRCh37
NC_000004.10:g.52588960T>C NCBI36
NG_008891.1:g.15283A>G , LRG_204:g.15283A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.684A>G MANE Select ENSP00000370839.6:p.Gly228=
ENST00000381431.9:c.684A>G ENSP00000370839.5:p.Gly228=
NM_000232.4:c.684A>G , LRG_204t1:c.684A>G NP_000223.1:p.Gly228=
XM_006714049.2:c.387A>G XP_006714112.1:p.Gly129=
XM_011534403.1:c.474A>G XP_011532705.1:p.Gly158=
XM_011534404.1:c.387A>G XP_011532706.1:p.Gly129=
NM_000232.5:c.684A>G MANE Select NP_000223.1:p.Gly228=
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