Linked Data
ClinVar Variation Id:
722019
ClinVar RCV Id:
RCV000895603
dbSNP Id:
rs141106023
ExAC:
7:107571850 G / A
gnomAD v2:
7-107571850-G-A
gnomAD v3:
7-107931405-G-A
gnomAD v4:
7-107931405-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107931405G>A , CM000669.2:g.107931405G>A | GRCh38 |
| NC_000007.13:g.107571850G>A , CM000669.1:g.107571850G>A | GRCh37 |
| NC_000007.12:g.107359086G>A | NCBI36 |
| NG_023255.1:g.76955C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222399.11:c.4488C>T (LAMB1) MANE Select | ENSP00000222399.6:p.Ser1496= | |
| ENST00000393561.6:c.4077C>T (LAMB1) | ENSP00000377191.2:p.Ser1359= | |
| ENST00000468518.2:n.2722C>T (LAMB1) | ||
| ENST00000468999.2:n.2636C>T (LAMB1) | ||
| ENST00000474380.2:n.1303C>T (LAMB1) | ||
| ENST00000676574.1:c.*404C>T (LAMB1) | ENSP00000503081.1:n.*404C>T | |
| ENST00000676744.1:n.334C>T (LAMB1) | ||
| ENST00000676777.1:c.4488C>T (LAMB1) | ENSP00000504756.1:p.Ser1496= | |
| ENST00000677101.1:c.*4124C>T (LAMB1) | ENSP00000503156.1:n.*4124C>T | |
| ENST00000677144.1:c.*1307C>T (LAMB1) | ENSP00000503049.1:n.*1307C>T | |
| ENST00000677485.1:n.5712C>T (LAMB1) | ||
| ENST00000677588.1:c.*719C>T (LAMB1) | ENSP00000502938.1:n.*719C>T | |
| ENST00000677793.1:c.4176C>T (LAMB1) | ENSP00000504020.1:p.Ser1392= | |
| ENST00000677801.1:c.*317C>T (LAMB1) | ENSP00000503438.1:n.*317C>T | |
| ENST00000678232.1:n.4677C>T (LAMB1) | ||
| ENST00000678310.1:n.2657C>T (LAMB1) | ||
| ENST00000678698.1:c.*560C>T (LAMB1) | ENSP00000503198.1:n.*560C>T | |
| ENST00000678704.1:c.*3070C>T (LAMB1) | ENSP00000504589.1:n.*3070C>T | |
| ENST00000678892.1:c.*560C>T (LAMB1) | ENSP00000504841.1:n.*560C>T | |
| ENST00000679200.1:c.*560C>T (LAMB1) | ENSP00000503498.1:n.*560C>T | |
| ENST00000222399.10:c.4488C>T (LAMB1) | ENSP00000222399.6:p.Ser1496= | |
| ENST00000393561.5:c.4560C>T (LAMB1) | ENSP00000377191.1:p.Ser1520= | |
| ENST00000417551.5:c.*125-26G>A (DLD) | ENSP00000390667.1:n.*125-26G>A | |
| ENST00000468518.1:n.547C>T (LAMB1) | ||
| ENST00000474380.1:n.725C>T (LAMB1) | ||
| NM_002291.2:c.4488C>T (LAMB1) | NP_002282.2:p.Ser1496= | |
| XM_017012201.1:c.4560C>T (LAMB1) | XP_016867690.1:p.Ser1520= | |
| XR_001744756.1:n.5407C>T (LAMB1) | ||
| NM_002291.3:c.4488C>T (LAMB1) MANE Select | NP_002282.2:p.Ser1496= |