dbSNP:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000429 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.0000031 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107924291C>A , CM000669.2:g.107924291C>A | GRCh38 |
| NC_000007.13:g.107564736C>A , CM000669.1:g.107564736C>A | GRCh37 |
| NC_000007.12:g.107351972C>A | NCBI36 |
| NG_023255.1:g.84069G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222399.11:c.5163G>T (LAMB1) MANE Select | ENSP00000222399.6:p.Met1721Ile | |
| ENST00000393561.6:c.4752G>T (LAMB1) | ENSP00000377191.2:p.Met1584Ile | |
| ENST00000468518.2:n.3397G>T (LAMB1) | ||
| ENST00000468999.2:n.3311G>T (LAMB1) | ||
| ENST00000472714.2:n.634G>T (LAMB1) | ||
| ENST00000474380.2:n.1978G>T (LAMB1) | ||
| ENST00000676574.1:c.*1079G>T (LAMB1) | ENSP00000503081.1:n.*1079G>T | |
| ENST00000676744.1:n.1009G>T (LAMB1) | ||
| ENST00000677101.1:c.*4799G>T (LAMB1) | ENSP00000503156.1:n.*4799G>T | |
| ENST00000677144.1:c.*1982G>T (LAMB1) | ENSP00000503049.1:n.*1982G>T | |
| ENST00000677485.1:n.6387G>T (LAMB1) | ||
| ENST00000677588.1:c.*1394G>T (LAMB1) | ENSP00000502938.1:n.*1394G>T | |
| ENST00000677793.1:c.4851G>T (LAMB1) | ENSP00000504020.1:p.Met1617Ile | |
| ENST00000677801.1:c.*992G>T (LAMB1) | ENSP00000503438.1:n.*992G>T | |
| ENST00000677957.1:n.2562G>T (LAMB1) | ||
| ENST00000678310.1:n.3332G>T (LAMB1) | ||
| ENST00000678698.1:c.*1235G>T (LAMB1) | ENSP00000503198.1:n.*1235G>T | |
| ENST00000678704.1:c.*3745G>T (LAMB1) | ENSP00000504589.1:n.*3745G>T | |
| ENST00000678892.1:c.*1235G>T (LAMB1) | ENSP00000504841.1:n.*1235G>T | |
| ENST00000678984.1:n.4059G>T (LAMB1) | ||
| ENST00000679200.1:c.*1235G>T (LAMB1) | ENSP00000503498.1:n.*1235G>T | |
| ENST00000222399.10:c.5163G>T (LAMB1) | ENSP00000222399.6:p.Met1721Ile | |
| ENST00000393561.5:c.5235G>T (LAMB1) | ENSP00000377191.1:p.Met1745Ile | |
| ENST00000417551.5:c.*124+4908C>A (DLD) | ENSP00000390667.1:n.*124+4908C>A | |
| ENST00000472714.1:n.1190G>T (LAMB1) | ||
| NM_002291.2:c.5163G>T (LAMB1) | NP_002282.2:p.Met1721Ile | |
| XM_017012201.1:c.5235G>T (LAMB1) | XP_016867690.1:p.Met1745Ile | |
| XR_001744756.1:n.6082G>T (LAMB1) | ||
| NM_002291.3:c.5163G>T (LAMB1) MANE Select | NP_002282.2:p.Met1721Ile |