Linked Data
ClinVar Variation Id:
2170942
ClinVar RCV Id:
RCV003080803
dbSNP Id:
rs753616199
ExAC:
7:107566760 C / T
gnomAD v2:
7-107566760-C-T
gnomAD v3:
7-107926315-C-T
gnomAD v4:
7-107926315-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107926315C>T , CM000669.2:g.107926315C>T | GRCh38 |
| NC_000007.13:g.107566760C>T , CM000669.1:g.107566760C>T | GRCh37 |
| NC_000007.12:g.107353996C>T | NCBI36 |
| NG_023255.1:g.82045G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222399.11:c.4932G>A (LAMB1) MANE Select | ENSP00000222399.6:p.Ala1644= | |
| ENST00000393561.6:c.4521G>A (LAMB1) | ENSP00000377191.2:p.Ala1507= | |
| ENST00000468518.2:n.3166G>A (LAMB1) | ||
| ENST00000468999.2:n.3080G>A (LAMB1) | ||
| ENST00000472714.2:n.403G>A (LAMB1) | ||
| ENST00000474380.2:n.1747G>A (LAMB1) | ||
| ENST00000676574.1:c.*848G>A (LAMB1) | ENSP00000503081.1:n.*848G>A | |
| ENST00000676744.1:n.778G>A (LAMB1) | ||
| ENST00000677101.1:c.*4568G>A (LAMB1) | ENSP00000503156.1:n.*4568G>A | |
| ENST00000677144.1:c.*1751G>A (LAMB1) | ENSP00000503049.1:n.*1751G>A | |
| ENST00000677485.1:n.6156G>A (LAMB1) | ||
| ENST00000677588.1:c.*1163G>A (LAMB1) | ENSP00000502938.1:n.*1163G>A | |
| ENST00000677793.1:c.4620G>A (LAMB1) | ENSP00000504020.1:p.Ala1540= | |
| ENST00000677801.1:c.*761G>A (LAMB1) | ENSP00000503438.1:n.*761G>A | |
| ENST00000677957.1:n.2331G>A (LAMB1) | ||
| ENST00000678310.1:n.3101G>A (LAMB1) | ||
| ENST00000678698.1:c.*1004G>A (LAMB1) | ENSP00000503198.1:n.*1004G>A | |
| ENST00000678704.1:c.*3514G>A (LAMB1) | ENSP00000504589.1:n.*3514G>A | |
| ENST00000678892.1:c.*1004G>A (LAMB1) | ENSP00000504841.1:n.*1004G>A | |
| ENST00000678984.1:n.2035G>A (LAMB1) | ||
| ENST00000679200.1:c.*1004G>A (LAMB1) | ENSP00000503498.1:n.*1004G>A | |
| ENST00000222399.10:c.4932G>A (LAMB1) | ENSP00000222399.6:p.Ala1644= | |
| ENST00000393561.5:c.5004G>A (LAMB1) | ENSP00000377191.1:p.Ala1668= | |
| ENST00000417551.5:c.*125-5116C>T (DLD) | ENSP00000390667.1:n.*125-5116C>T | |
| ENST00000472714.1:n.959G>A (LAMB1) | ||
| NM_002291.2:c.4932G>A (LAMB1) | NP_002282.2:p.Ala1644= | |
| XM_017012201.1:c.5004G>A (LAMB1) | XP_016867690.1:p.Ala1668= | |
| XR_001744756.1:n.5851G>A (LAMB1) | ||
| NM_002291.3:c.4932G>A (LAMB1) MANE Select | NP_002282.2:p.Ala1644= |