Canonical Allele Identifier: CA123936
Gene: LHB HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.49016273T>C
GRCh37 chr19:g.49519530T>C
Revel Score:
ENST00000221421 0.512
ENST00000391870 0.512
gnomAD v4:
chr19-49016273-T-C
Joint Max Group AF 2.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
ClinVar RCV:
RCV000015494
ClinVar Variation:
14413
dbSNP:
5030773
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.49016273T>C , CM000681.2:g.49016273T>C GRCh38
NC_000019.9:g.49519530T>C , CM000681.1:g.49519530T>C GRCh37
NC_000019.8:g.54211342T>C NCBI36
NG_011464.1:g.5818A>G
NG_033041.1:g.27375T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000649238.3:c.221A>G MANE Select ENSP00000497294.2:p.Gln74Arg
ENST00000649284.1:n.312A>G
ENST00000221421.6:c.221A>G ENSP00000221421.1:p.Gln74Arg
ENST00000391869.4:c.215A>G ENSP00000375742.4:p.Gln72Arg
NM_000894.2:c.221A>G NP_000885.1:p.Gln74Arg
XM_011526975.1:c.269A>G XP_011525277.1:p.Gln90Arg
NM_000894.3:c.221A>G MANE Select NP_000885.1:p.Gln74Arg
Search 100 bp 5'
Search 100 bp 3'