Linked Data
ClinVar Variation Id:
1941034
ClinVar RCV Id:
RCV002675526
dbSNP Id:
rs146689575
ExAC:
7:107566713 C / T
gnomAD v2:
7-107566713-C-T
gnomAD v3:
7-107926268-C-T
gnomAD v4:
7-107926268-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107926268C>T , CM000669.2:g.107926268C>T | GRCh38 |
| NC_000007.13:g.107566713C>T , CM000669.1:g.107566713C>T | GRCh37 |
| NC_000007.12:g.107353949C>T | NCBI36 |
| NG_023255.1:g.82092G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222399.11:c.4979G>A (LAMB1) MANE Select | ENSP00000222399.6:p.Arg1660Gln | |
| ENST00000393561.6:c.4568G>A (LAMB1) | ENSP00000377191.2:p.Arg1523Gln | |
| ENST00000468518.2:n.3213G>A (LAMB1) | ||
| ENST00000468999.2:n.3127G>A (LAMB1) | ||
| ENST00000472714.2:n.450G>A (LAMB1) | ||
| ENST00000474380.2:n.1794G>A (LAMB1) | ||
| ENST00000676574.1:c.*895G>A (LAMB1) | ENSP00000503081.1:n.*895G>A | |
| ENST00000676744.1:n.825G>A (LAMB1) | ||
| ENST00000677101.1:c.*4615G>A (LAMB1) | ENSP00000503156.1:n.*4615G>A | |
| ENST00000677144.1:c.*1798G>A (LAMB1) | ENSP00000503049.1:n.*1798G>A | |
| ENST00000677485.1:n.6203G>A (LAMB1) | ||
| ENST00000677588.1:c.*1210G>A (LAMB1) | ENSP00000502938.1:n.*1210G>A | |
| ENST00000677793.1:c.4667G>A (LAMB1) | ENSP00000504020.1:p.Arg1556Gln | |
| ENST00000677801.1:c.*808G>A (LAMB1) | ENSP00000503438.1:n.*808G>A | |
| ENST00000677957.1:n.2378G>A (LAMB1) | ||
| ENST00000678310.1:n.3148G>A (LAMB1) | ||
| ENST00000678698.1:c.*1051G>A (LAMB1) | ENSP00000503198.1:n.*1051G>A | |
| ENST00000678704.1:c.*3561G>A (LAMB1) | ENSP00000504589.1:n.*3561G>A | |
| ENST00000678892.1:c.*1051G>A (LAMB1) | ENSP00000504841.1:n.*1051G>A | |
| ENST00000678984.1:n.2082G>A (LAMB1) | ||
| ENST00000679200.1:c.*1051G>A (LAMB1) | ENSP00000503498.1:n.*1051G>A | |
| ENST00000222399.10:c.4979G>A (LAMB1) | ENSP00000222399.6:p.Arg1660Gln | |
| ENST00000393561.5:c.5051G>A (LAMB1) | ENSP00000377191.1:p.Arg1684Gln | |
| ENST00000417551.5:c.*125-5163C>T (DLD) | ENSP00000390667.1:n.*125-5163C>T | |
| ENST00000472714.1:n.1006G>A (LAMB1) | ||
| NM_002291.2:c.4979G>A (LAMB1) | NP_002282.2:p.Arg1660Gln | |
| XM_017012201.1:c.5051G>A (LAMB1) | XP_016867690.1:p.Arg1684Gln | |
| XR_001744756.1:n.5898G>A (LAMB1) | ||
| NM_002291.3:c.4979G>A (LAMB1) MANE Select | NP_002282.2:p.Arg1660Gln |