Linked Data
dbSNP Id:
rs1053189991
gnomAD v2:
11-22294479-A-T
gnomAD v3:
11-22272933-A-T
gnomAD v4:
11-22272933-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22272933A>T , CM000673.2:g.22272933A>T | GRCh38 |
| NC_000011.9:g.22294479A>T , CM000673.1:g.22294479A>T | GRCh37 |
| NC_000011.8:g.22251055A>T | NCBI36 |
| NG_015844.1:g.84758A>T , LRG_868:g.84758A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000532043.2:n.196A>T | ||
| ENST00000682266.1:c.1729A>T | ENSP00000507766.1:p.Ile577Leu | |
| ENST00000682341.1:c.2137A>T | ENSP00000508251.1:p.Ile713Leu | |
| ENST00000683197.1:c.2137A>T | ENSP00000507641.1:p.Ile713Leu | |
| ENST00000683411.1:c.1729A>T | ENSP00000508397.1:p.Ile577Leu | |
| ENST00000683437.1:c.1729A>T | ENSP00000508408.1:p.Ile577Leu | |
| ENST00000683613.1:n.3173A>T | ||
| ENST00000684663.1:c.2134A>T | ENSP00000508009.1:p.Ile712Leu | |
| ENST00000324559.9:c.2179A>T MANE Select | ENSP00000315371.9:p.Ile727Leu | |
| ENST00000648804.1:n.2514A>T | ||
| ENST00000324559.8:c.2179A>T | ENSP00000315371.8:p.Ile727Leu | |
| ENST00000532043.1:n.196A>T | ||
| NM_001142649.1:c.2176A>T | NP_001136121.1:p.Ile726Leu | |
| NM_213599.2:c.2179A>T , LRG_868t1:c.2179A>T | NP_998764.1:p.Ile727Leu | |
| XM_005252820.2:c.2137A>T | XP_005252877.2:p.Ile713Leu | |
| XM_005252821.2:c.2134A>T | XP_005252878.2:p.Ile712Leu | |
| XM_005252822.3:c.2101A>T | XP_005252879.1:p.Ile701Leu | |
| XM_005252823.3:c.2098A>T | XP_005252880.1:p.Ile700Leu | |
| XM_011519949.1:c.2086A>T | XP_011518251.1:p.Ile696Leu | |
| XM_005252820.3:c.2137A>T | XP_005252877.2:p.Ile713Leu | |
| XM_005252821.3:c.2134A>T | XP_005252878.2:p.Ile712Leu | |
| XM_005252822.4:c.2101A>T | XP_005252879.1:p.Ile701Leu | |
| XM_011519949.2:c.2086A>T | XP_011518251.1:p.Ile696Leu | |
| NM_001142649.2:c.2176A>T | NP_001136121.1:p.Ile726Leu | |
| NM_213599.3:c.2179A>T MANE Select | NP_998764.1:p.Ile727Leu |