Canonical Allele Identifier: CA4469673
Gene: LEP HGNC NCBI

Linked Data

dbSNP Id: rs750649453
ExAC: 7:127894531 C / T
gnomAD v2: 7-127894531-C-T
gnomAD v4: 7-128254478-C-T
MyVariant Identifiers: chr7:g.127894531C>T (hg19) chr7:g.128254478C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128254478C>T , CM000669.2:g.128254478C>T GRCh38
NC_000007.13:g.127894531C>T , CM000669.1:g.127894531C>T GRCh37
NC_000007.12:g.127681767C>T NCBI36
NG_007450.1:g.18201C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000308868.5:c.219C>T MANE Select ENSP00000312652.4:p.Ser73=
ENST00000308868.4:c.219C>T ENSP00000312652.4:p.Ser73=
NM_000230.2:c.219C>T NP_000221.1:p.Ser73=
XM_005250340.3:c.216C>T XP_005250397.1:p.Ser72=
XM_005250340.5:c.216C>T XP_005250397.1:p.Ser72=
NM_000230.3:c.219C>T MANE Select NP_000221.1:p.Ser73=
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