Linked Data
ClinVar Variation Id:
380841
dbSNP Id:
rs1131398
ExAC:
7:107569517 A / G
gnomAD v2:
7-107569517-A-G
gnomAD v3:
7-107929072-A-G
gnomAD v4:
7-107929072-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107929072A>G , CM000669.2:g.107929072A>G | GRCh38 |
| NC_000007.13:g.107569517A>G , CM000669.1:g.107569517A>G | GRCh37 |
| NC_000007.12:g.107356753A>G | NCBI36 |
| NG_023255.1:g.79288T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222399.11:c.4879T>C (LAMB1) MANE Select | ENSP00000222399.6:p.Leu1627= | |
| ENST00000393561.6:c.4468T>C (LAMB1) | ENSP00000377191.2:p.Leu1490= | |
| ENST00000468518.2:n.3113T>C (LAMB1) | ||
| ENST00000468999.2:n.3027T>C (LAMB1) | ||
| ENST00000472714.2:n.350T>C (LAMB1) | ||
| ENST00000474380.2:n.1694T>C (LAMB1) | ||
| ENST00000676574.1:c.*795T>C (LAMB1) | ENSP00000503081.1:n.*795T>C | |
| ENST00000676592.1:n.515T>C (LAMB1) | ||
| ENST00000676744.1:n.725T>C (LAMB1) | ||
| ENST00000676777.1:c.4879T>C (LAMB1) | ENSP00000504756.1:p.Leu1627= | |
| ENST00000677101.1:c.*4515T>C (LAMB1) | ENSP00000503156.1:n.*4515T>C | |
| ENST00000677144.1:c.*1698T>C (LAMB1) | ENSP00000503049.1:n.*1698T>C | |
| ENST00000677485.1:n.6103T>C (LAMB1) | ||
| ENST00000677588.1:c.*1110T>C (LAMB1) | ENSP00000502938.1:n.*1110T>C | |
| ENST00000677793.1:c.4567T>C (LAMB1) | ENSP00000504020.1:p.Leu1523= | |
| ENST00000677801.1:c.*708T>C (LAMB1) | ENSP00000503438.1:n.*708T>C | |
| ENST00000677883.1:n.182T>C (LAMB1) | ||
| ENST00000678310.1:n.3048T>C (LAMB1) | ||
| ENST00000678698.1:c.*951T>C (LAMB1) | ENSP00000503198.1:n.*951T>C | |
| ENST00000678704.1:c.*3461T>C (LAMB1) | ENSP00000504589.1:n.*3461T>C | |
| ENST00000678892.1:c.*951T>C (LAMB1) | ENSP00000504841.1:n.*951T>C | |
| ENST00000679200.1:c.*951T>C (LAMB1) | ENSP00000503498.1:n.*951T>C | |
| ENST00000222399.10:c.4879T>C (LAMB1) | ENSP00000222399.6:p.Leu1627= | |
| ENST00000393561.5:c.4951T>C (LAMB1) | ENSP00000377191.1:p.Leu1651= | |
| ENST00000417551.5:c.*125-2359A>G (DLD) | ENSP00000390667.1:n.*125-2359A>G | |
| ENST00000472714.1:n.906T>C (LAMB1) | ||
| NM_002291.2:c.4879T>C (LAMB1) | NP_002282.2:p.Leu1627= | |
| XM_017012201.1:c.4951T>C (LAMB1) | XP_016867690.1:p.Leu1651= | |
| XR_001744756.1:n.5798T>C (LAMB1) | ||
| NM_002291.3:c.4879T>C (LAMB1) MANE Select | NP_002282.2:p.Leu1627= |