Canonical Allele Identifier: CA1290834682
Gene: LCT HGNC NCBI

Linked Data

dbSNP Id: rs2077786908
gnomAD v4: 2-135817196-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135817196T>C , CM000664.2:g.135817196T>C GRCh38
NC_000002.11:g.136574766T>C , CM000664.1:g.136574766T>C GRCh37
NC_000002.10:g.136291236T>C NCBI36
NG_008104.2:g.42974A>G , LRG_338:g.42974A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000264162.7:c.1707+145A>G MANE Select ENSP00000264162.2:n.1707+145A>G
ENST00000264162.6:c.1707+145A>G ENSP00000264162.2:n.1707+145A>G
NM_002299.2:c.1707+145A>G , LRG_338t1:c.1707+145A>G NP_002290.2:n.1707+145A>G
NM_002299.3:c.1707+145A>G NP_002290.2:n.1707+145A>G
XM_017004088.2:c.1707+145A>G XP_016859577.1:n.1707+145A>G
NM_002299.4:c.1707+145A>G MANE Select NP_002290.2:n.1707+145A>G
Search 100 bp 5'
Search 100 bp 3'