Linked Data
ClinVar Variation Id:
516912
dbSNP Id:
rs75573969
ExAC:
7:107566812 C / T
gnomAD v2:
7-107566812-C-T
gnomAD v3:
7-107926367-C-T
gnomAD v4:
7-107926367-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107926367C>T , CM000669.2:g.107926367C>T | GRCh38 |
| NC_000007.13:g.107566812C>T , CM000669.1:g.107566812C>T | GRCh37 |
| NC_000007.12:g.107354048C>T | NCBI36 |
| NG_023255.1:g.81993G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222399.11:c.4888-8G>A (LAMB1) MANE Select | ENSP00000222399.6:n.4888-8G>A | |
| ENST00000393561.6:c.4477-8G>A (LAMB1) | ENSP00000377191.2:n.4477-8G>A | |
| ENST00000468518.2:n.3122-8G>A (LAMB1) | ||
| ENST00000468999.2:n.3036-8G>A (LAMB1) | ||
| ENST00000472714.2:n.359-8G>A (LAMB1) | ||
| ENST00000474380.2:n.1703-8G>A (LAMB1) | ||
| ENST00000676574.1:c.*804-8G>A (LAMB1) | ENSP00000503081.1:n.*804-8G>A | |
| ENST00000676744.1:n.734-8G>A (LAMB1) | ||
| ENST00000677101.1:c.*4524-8G>A (LAMB1) | ENSP00000503156.1:n.*4524-8G>A | |
| ENST00000677144.1:c.*1707-8G>A (LAMB1) | ENSP00000503049.1:n.*1707-8G>A | |
| ENST00000677485.1:n.6112-8G>A (LAMB1) | ||
| ENST00000677588.1:c.*1119-8G>A (LAMB1) | ENSP00000502938.1:n.*1119-8G>A | |
| ENST00000677793.1:c.4576-8G>A (LAMB1) | ENSP00000504020.1:n.4576-8G>A | |
| ENST00000677801.1:c.*717-8G>A (LAMB1) | ENSP00000503438.1:n.*717-8G>A | |
| ENST00000677957.1:n.2279G>A (LAMB1) | ||
| ENST00000678310.1:n.3057-8G>A (LAMB1) | ||
| ENST00000678698.1:c.*960-8G>A (LAMB1) | ENSP00000503198.1:n.*960-8G>A | |
| ENST00000678704.1:c.*3470-8G>A (LAMB1) | ENSP00000504589.1:n.*3470-8G>A | |
| ENST00000678892.1:c.*960-8G>A (LAMB1) | ENSP00000504841.1:n.*960-8G>A | |
| ENST00000678984.1:n.1983G>A (LAMB1) | ||
| ENST00000679200.1:c.*960-8G>A (LAMB1) | ENSP00000503498.1:n.*960-8G>A | |
| ENST00000222399.10:c.4888-8G>A (LAMB1) | ENSP00000222399.6:n.4888-8G>A | |
| ENST00000393561.5:c.4960-8G>A (LAMB1) | ENSP00000377191.1:n.4960-8G>A | |
| ENST00000417551.5:c.*125-5064C>T (DLD) | ENSP00000390667.1:n.*125-5064C>T | |
| ENST00000472714.1:n.915-8G>A (LAMB1) | ||
| NM_002291.2:c.4888-8G>A (LAMB1) | NP_002282.2:n.4888-8G>A | |
| XM_017012201.1:c.4960-8G>A (LAMB1) | XP_016867690.1:n.4960-8G>A | |
| XR_001744756.1:n.5807-8G>A (LAMB1) | ||
| NM_002291.3:c.4888-8G>A (LAMB1) MANE Select | NP_002282.2:n.4888-8G>A |