Linked Data
dbSNP Id:
rs145259999
ExAC:
7:107571915 C / G
gnomAD v2:
7-107571915-C-G
gnomAD v3:
7-107931470-C-G
gnomAD v4:
7-107931470-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107931470C>G , CM000669.2:g.107931470C>G | GRCh38 |
| NC_000007.13:g.107571915C>G , CM000669.1:g.107571915C>G | GRCh37 |
| NC_000007.12:g.107359151C>G | NCBI36 |
| NG_023255.1:g.76890G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222399.11:c.4423G>C (LAMB1) MANE Select | ENSP00000222399.6:p.Ala1475Pro | |
| ENST00000393561.6:c.4012G>C (LAMB1) | ENSP00000377191.2:p.Ala1338Pro | |
| ENST00000468518.2:n.2657G>C (LAMB1) | ||
| ENST00000468999.2:n.2571G>C (LAMB1) | ||
| ENST00000474380.2:n.1238G>C (LAMB1) | ||
| ENST00000676574.1:c.*339G>C (LAMB1) | ENSP00000503081.1:n.*339G>C | |
| ENST00000676744.1:n.269G>C (LAMB1) | ||
| ENST00000676777.1:c.4423G>C (LAMB1) | ENSP00000504756.1:p.Ala1475Pro | |
| ENST00000677101.1:c.*4059G>C (LAMB1) | ENSP00000503156.1:n.*4059G>C | |
| ENST00000677144.1:c.*1242G>C (LAMB1) | ENSP00000503049.1:n.*1242G>C | |
| ENST00000677485.1:n.5647G>C (LAMB1) | ||
| ENST00000677588.1:c.*654G>C (LAMB1) | ENSP00000502938.1:n.*654G>C | |
| ENST00000677793.1:c.4111G>C (LAMB1) | ENSP00000504020.1:p.Ala1371Pro | |
| ENST00000677801.1:c.*252G>C (LAMB1) | ENSP00000503438.1:n.*252G>C | |
| ENST00000678232.1:n.4612G>C (LAMB1) | ||
| ENST00000678310.1:n.2592G>C (LAMB1) | ||
| ENST00000678698.1:c.*495G>C (LAMB1) | ENSP00000503198.1:n.*495G>C | |
| ENST00000678704.1:c.*3005G>C (LAMB1) | ENSP00000504589.1:n.*3005G>C | |
| ENST00000678892.1:c.*495G>C (LAMB1) | ENSP00000504841.1:n.*495G>C | |
| ENST00000679200.1:c.*495G>C (LAMB1) | ENSP00000503498.1:n.*495G>C | |
| ENST00000222399.10:c.4423G>C (LAMB1) | ENSP00000222399.6:p.Ala1475Pro | |
| ENST00000393561.5:c.4495G>C (LAMB1) | ENSP00000377191.1:p.Ala1499Pro | |
| ENST00000417551.5:c.*164C>G (DLD) | ENSP00000390667.1:n.*164C>G | |
| ENST00000468518.1:n.482G>C (LAMB1) | ||
| ENST00000474380.1:n.660G>C (LAMB1) | ||
| NM_002291.2:c.4423G>C (LAMB1) | NP_002282.2:p.Ala1475Pro | |
| XM_017012201.1:c.4495G>C (LAMB1) | XP_016867690.1:p.Ala1499Pro | |
| XR_001744756.1:n.5342G>C (LAMB1) | ||
| NM_002291.3:c.4423G>C (LAMB1) MANE Select | NP_002282.2:p.Ala1475Pro |