Canonical Allele Identifier: CA348605777
Gene: LCT HGNC NCBI

Linked Data

dbSNP Id: rs1335546413
gnomAD v2: 2-136575005-A-T
gnomAD v3: 2-135817435-A-T
gnomAD v4: 2-135817435-A-T
MyVariant Identifiers: chr2:g.136575005A>T (hg19) chr2:g.135817435A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135817435A>T , CM000664.2:g.135817435A>T GRCh38
NC_000002.11:g.136575005A>T , CM000664.1:g.136575005A>T GRCh37
NC_000002.10:g.136291475A>T NCBI36
NG_008104.2:g.42735T>A , LRG_338:g.42735T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264162.7:c.1613T>A MANE Select ENSP00000264162.2:p.Val538Glu
ENST00000264162.6:c.1613T>A ENSP00000264162.2:p.Val538Glu
NM_002299.2:c.1613T>A , LRG_338t1:c.1613T>A NP_002290.2:p.Val538Glu
NM_002299.3:c.1613T>A NP_002290.2:p.Val538Glu
XM_017004088.2:c.1613T>A XP_016859577.1:p.Val538Glu
NM_002299.4:c.1613T>A MANE Select NP_002290.2:p.Val538Glu
Search 100 bp 5'
Search 100 bp 3'