Linked Data
ClinVar Variation Id:
1701800
ClinVar RCV Id:
RCV002275698
dbSNP Id:
rs2116319489
MutSpliceDB:
CA368862349
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107929207T>G , CM000669.2:g.107929207T>G | GRCh38 |
| NC_000007.13:g.107569652T>G , CM000669.1:g.107569652T>G | GRCh37 |
| NC_000007.12:g.107356888T>G | NCBI36 |
| NG_023255.1:g.79153A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222399.11:c.4746-2A>C (LAMB1) MANE Select | ENSP00000222399.6:n.4746-2A>C | |
| ENST00000393561.6:c.4335-2A>C (LAMB1) | ENSP00000377191.2:n.4335-2A>C | |
| ENST00000468518.2:n.2980-2A>C (LAMB1) | ||
| ENST00000468999.2:n.2894-2A>C (LAMB1) | ||
| ENST00000472714.2:n.215A>C (LAMB1) | ||
| ENST00000474380.2:n.1561-2A>C (LAMB1) | ||
| ENST00000676574.1:c.*662-2A>C (LAMB1) | ENSP00000503081.1:n.*662-2A>C | |
| ENST00000676592.1:n.382-2A>C (LAMB1) | ||
| ENST00000676744.1:n.592-2A>C (LAMB1) | ||
| ENST00000676777.1:c.4746-2A>C (LAMB1) | ENSP00000504756.1:n.4746-2A>C | |
| ENST00000677101.1:c.*4382-2A>C (LAMB1) | ENSP00000503156.1:n.*4382-2A>C | |
| ENST00000677144.1:c.*1565-2A>C (LAMB1) | ENSP00000503049.1:n.*1565-2A>C | |
| ENST00000677485.1:n.5970-2A>C (LAMB1) | ||
| ENST00000677588.1:c.*977-2A>C (LAMB1) | ENSP00000502938.1:n.*977-2A>C | |
| ENST00000677793.1:c.4434-2A>C (LAMB1) | ENSP00000504020.1:n.4434-2A>C | |
| ENST00000677801.1:c.*575-2A>C (LAMB1) | ENSP00000503438.1:n.*575-2A>C | |
| ENST00000677883.1:n.49-2A>C (LAMB1) | ||
| ENST00000678310.1:n.2915-2A>C (LAMB1) | ||
| ENST00000678698.1:c.*818-2A>C (LAMB1) | ENSP00000503198.1:n.*818-2A>C | |
| ENST00000678704.1:c.*3328-2A>C (LAMB1) | ENSP00000504589.1:n.*3328-2A>C | |
| ENST00000678892.1:c.*818-2A>C (LAMB1) | ENSP00000504841.1:n.*818-2A>C | |
| ENST00000679200.1:c.*818-2A>C (LAMB1) | ENSP00000503498.1:n.*818-2A>C | |
| ENST00000222399.10:c.4746-2A>C (LAMB1) | ENSP00000222399.6:n.4746-2A>C | |
| ENST00000393561.5:c.4818-2A>C (LAMB1) | ENSP00000377191.1:n.4818-2A>C | |
| ENST00000417551.5:c.*125-2224T>G (DLD) | ENSP00000390667.1:n.*125-2224T>G | |
| ENST00000472714.1:n.771A>C (LAMB1) | ||
| NM_002291.2:c.4746-2A>C (LAMB1) | NP_002282.2:n.4746-2A>C | |
| XM_017012201.1:c.4818-2A>C (LAMB1) | XP_016867690.1:n.4818-2A>C | |
| XR_001744756.1:n.5665-2A>C (LAMB1) | ||
| NM_002291.3:c.4746-2A>C (LAMB1) MANE Select | NP_002282.2:n.4746-2A>C |