Linked Data
dbSNP Id:
rs762084539
ExAC:
7:107571948 A / C
gnomAD v2:
7-107571948-A-C
gnomAD v4:
7-107931503-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107931503A>C , CM000669.2:g.107931503A>C | GRCh38 |
| NC_000007.13:g.107571948A>C , CM000669.1:g.107571948A>C | GRCh37 |
| NC_000007.12:g.107359184A>C | NCBI36 |
| NG_023255.1:g.76857T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222399.11:c.4393-3T>G (LAMB1) MANE Select | ENSP00000222399.6:n.4393-3T>G | |
| ENST00000393561.6:c.3982-3T>G (LAMB1) | ENSP00000377191.2:n.3982-3T>G | |
| ENST00000468518.2:n.2627-3T>G (LAMB1) | ||
| ENST00000468999.2:n.2541-3T>G (LAMB1) | ||
| ENST00000474380.2:n.1208-3T>G (LAMB1) | ||
| ENST00000676574.1:c.*309-3T>G (LAMB1) | ENSP00000503081.1:n.*309-3T>G | |
| ENST00000676744.1:n.236T>G (LAMB1) | ||
| ENST00000676777.1:c.4393-3T>G (LAMB1) | ENSP00000504756.1:n.4393-3T>G | |
| ENST00000677101.1:c.*4029-3T>G (LAMB1) | ENSP00000503156.1:n.*4029-3T>G | |
| ENST00000677144.1:c.*1212-3T>G (LAMB1) | ENSP00000503049.1:n.*1212-3T>G | |
| ENST00000677485.1:n.5617-3T>G (LAMB1) | ||
| ENST00000677588.1:c.*624-3T>G (LAMB1) | ENSP00000502938.1:n.*624-3T>G | |
| ENST00000677793.1:c.4081-3T>G (LAMB1) | ENSP00000504020.1:n.4081-3T>G | |
| ENST00000677801.1:c.*222-3T>G (LAMB1) | ENSP00000503438.1:n.*222-3T>G | |
| ENST00000678232.1:n.4582-3T>G (LAMB1) | ||
| ENST00000678310.1:n.2562-3T>G (LAMB1) | ||
| ENST00000678698.1:c.*465-3T>G (LAMB1) | ENSP00000503198.1:n.*465-3T>G | |
| ENST00000678704.1:c.*2975-3T>G (LAMB1) | ENSP00000504589.1:n.*2975-3T>G | |
| ENST00000678892.1:c.*465-3T>G (LAMB1) | ENSP00000504841.1:n.*465-3T>G | |
| ENST00000679200.1:c.*465-3T>G (LAMB1) | ENSP00000503498.1:n.*465-3T>G | |
| ENST00000222399.10:c.4393-3T>G (LAMB1) | ENSP00000222399.6:n.4393-3T>G | |
| ENST00000393561.5:c.4465-3T>G (LAMB1) | ENSP00000377191.1:n.4465-3T>G | |
| ENST00000417551.5:c.*197A>C (DLD) | ENSP00000390667.1:n.*197A>C | |
| ENST00000468518.1:n.452-3T>G (LAMB1) | ||
| ENST00000474380.1:n.630-3T>G (LAMB1) | ||
| NM_002291.2:c.4393-3T>G (LAMB1) | NP_002282.2:n.4393-3T>G | |
| XM_017012201.1:c.4465-3T>G (LAMB1) | XP_016867690.1:n.4465-3T>G | |
| XR_001744756.1:n.5312-3T>G (LAMB1) | ||
| NM_002291.3:c.4393-3T>G (LAMB1) MANE Select | NP_002282.2:n.4393-3T>G |