Canonical Allele Identifier: CA348608780
Gene: LCT HGNC NCBI

Linked Data

ClinVar Variation Id: 2306379
ClinVar RCV Id: RCV002869841
dbSNP Id: rs1412504198
gnomAD v2: 2-136590712-A-G
gnomAD v4: 2-135833142-A-G
MyVariant Identifiers: chr2:g.136590712A>G (hg19) chr2:g.135833142A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135833142A>G , CM000664.2:g.135833142A>G GRCh38
NC_000002.11:g.136590712A>G , CM000664.1:g.136590712A>G GRCh37
NC_000002.10:g.136307182A>G NCBI36
NG_008104.2:g.27028T>C , LRG_338:g.27028T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264162.7:c.689T>C MANE Select ENSP00000264162.2:p.Leu230Pro
ENST00000264162.6:c.689T>C ENSP00000264162.2:p.Leu230Pro
NM_002299.2:c.689T>C , LRG_338t1:c.689T>C NP_002290.2:p.Leu230Pro
NM_002299.3:c.689T>C NP_002290.2:p.Leu230Pro
XM_017004088.2:c.689T>C XP_016859577.1:p.Leu230Pro
NM_002299.4:c.689T>C MANE Select NP_002290.2:p.Leu230Pro
Search 100 bp 5'
Search 100 bp 3'