Canonical Allele Identifier: CA235774
Gene: LAMB3 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 190993
ClinVar RCV Id: RCV000171166
dbSNP Id: rs786205451

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209624001C>T , CM000663.2:g.209624001C>T GRCh38
NC_000001.10:g.209797346C>T , CM000663.1:g.209797346C>T GRCh37
NC_000001.9:g.207863969C>T NCBI36
NG_007116.1:g.33475G>A

Transcript Alleles

HGVS Amino-acid change
NM_000228.2:c.1977-1G>A VV NP_000219.2:p.=
NM_001017402.1:c.1977-1G>A VV NP_001017402.1:p.=
NM_001127641.1:c.1977-1G>A VV NP_001121113.1:p.=
XM_005273124.3:c.1977-1G>A XP_005273181.1:p.=
XM_005273124.4:c.1977-1G>A XP_005273181.1:p.=
XM_017001272.2:c.1785-1G>A XP_016856761.1:p.=
NM_000228.3:c.1977-1G>A VV MANE Preferred NP_000219.2:p.=
ENST00000356082.8:c.1977-1G>A ENSP00000348384.3:p.=
ENST00000367030.7:c.1977-1G>A ENSP00000355997.3:p.=
ENST00000391911.5:c.1977-1G>A ENSP00000375778.1:p.=