Canonical Allele Identifier: CA1888372
Gene: LCT HGNC NCBI

Linked Data

ClinVar Variation Id: 1961355
ClinVar RCV Id: RCV002734830
dbSNP Id: rs200097290
ExAC: 2:136575033 T / C
gnomAD v2: 2-136575033-T-C
gnomAD v3: 2-135817463-T-C
gnomAD v4: 2-135817463-T-C
MyVariant Identifiers: chr2:g.136575033T>C (hg19) chr2:g.135817463T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135817463T>C , CM000664.2:g.135817463T>C GRCh38
NC_000002.11:g.136575033T>C , CM000664.1:g.136575033T>C GRCh37
NC_000002.10:g.136291503T>C NCBI36
NG_008104.2:g.42707A>G , LRG_338:g.42707A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000264162.7:c.1585A>G MANE Select ENSP00000264162.2:p.Thr529Ala
ENST00000264162.6:c.1585A>G ENSP00000264162.2:p.Thr529Ala
NM_002299.2:c.1585A>G , LRG_338t1:c.1585A>G NP_002290.2:p.Thr529Ala
NM_002299.3:c.1585A>G NP_002290.2:p.Thr529Ala
XM_017004088.2:c.1585A>G XP_016859577.1:p.Thr529Ala
NM_002299.4:c.1585A>G MANE Select NP_002290.2:p.Thr529Ala
Search 100 bp 5'
Search 100 bp 3'