Canonical Allele Identifier: CA1887744
Gene: LCT HGNC NCBI

Linked Data

dbSNP Id: rs755640558
ExAC: 2:136555704 A / G
gnomAD v2: 2-136555704-A-G
gnomAD v4: 2-135798134-A-G
MyVariant Identifiers: chr2:g.136555704A>G (hg19) chr2:g.135798134A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135798134A>G , CM000664.2:g.135798134A>G GRCh38
NC_000002.11:g.136555704A>G , CM000664.1:g.136555704A>G GRCh37
NC_000002.10:g.136272174A>G NCBI36
NG_008104.2:g.62036T>C , LRG_338:g.62036T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264162.7:c.4871T>C MANE Select ENSP00000264162.2:p.Met1624Thr
ENST00000264162.6:c.4871T>C ENSP00000264162.2:p.Met1624Thr
ENST00000452974.1:c.2964T>C ENSP00000391231.1:p.His988=
NM_002299.2:c.4871T>C , LRG_338t1:c.4871T>C NP_002290.2:p.Met1624Thr
NM_002299.3:c.4871T>C NP_002290.2:p.Met1624Thr
XM_017004088.2:c.4871T>C XP_016859577.1:p.Met1624Thr
NM_002299.4:c.4871T>C MANE Select NP_002290.2:p.Met1624Thr
Search 100 bp 5'
Search 100 bp 3'