Canonical Allele Identifier: CA257278
Gene: LAMB3 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 14545
ClinVar RCV Id: RCV000015646
dbSNP Id: rs121912484

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209625794C>T , CM000663.2:g.209625794C>T GRCh38
NC_000001.10:g.209799139C>T , CM000663.1:g.209799139C>T GRCh37
NC_000001.9:g.207865762C>T NCBI36
NG_007116.1:g.31682G>A

Transcript Alleles

HGVS Amino-acid change
NM_000228.2:c.1830G>A VV NP_000219.2:p.Trp610Ter
NM_001017402.1:c.1830G>A VV NP_001017402.1:p.Trp610Ter
NM_001127641.1:c.1830G>A VV NP_001121113.1:p.Trp610Ter
XM_005273124.3:c.1830G>A XP_005273181.1:p.Trp610Ter
XM_005273124.4:c.1830G>A
XM_017001272.2:c.1638G>A XP_016856761.1:p.Trp546Ter
NM_000228.3:c.1830G>A VV MANE Preferred
ENST00000356082.8:c.1830G>A ENSP00000348384.3:p.Trp610Ter
ENST00000367030.7:c.1830G>A ENSP00000355997.3:p.Trp610Ter
ENST00000391911.5:c.1830G>A ENSP00000375778.1:p.Trp610Ter