Linked Data
ClinVar Variation Id:
449531
dbSNP Id:
rs772929002
ExAC:
11:22261169 C / T
gnomAD v2:
11-22261169-C-T
gnomAD v3:
11-22239623-C-T
gnomAD v4:
11-22239623-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22239623C>T , CM000673.2:g.22239623C>T | GRCh38 |
| NC_000011.9:g.22261169C>T , CM000673.1:g.22261169C>T | GRCh37 |
| NC_000011.8:g.22217745C>T | NCBI36 |
| NG_015844.1:g.51448C>T , LRG_868:g.51448C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682266.1:c.367C>T | ENSP00000507766.1:p.Leu123Phe | |
| ENST00000682341.1:c.775C>T | ENSP00000508251.1:p.Leu259Phe | |
| ENST00000682530.1:c.*749C>T | ENSP00000506805.1:n.*749C>T | |
| ENST00000682684.1:n.1196C>T | ||
| ENST00000683197.1:c.775C>T | ENSP00000507641.1:p.Leu259Phe | |
| ENST00000683411.1:c.367C>T | ENSP00000508397.1:p.Leu123Phe | |
| ENST00000683437.1:c.367C>T | ENSP00000508408.1:p.Leu123Phe | |
| ENST00000683613.1:n.1811C>T | ||
| ENST00000683834.1:n.1017C>T | ||
| ENST00000684663.1:c.772C>T | ENSP00000508009.1:p.Leu258Phe | |
| ENST00000324559.9:c.817C>T MANE Select | ENSP00000315371.9:p.Leu273Phe | |
| ENST00000648804.1:n.1214-10614C>T | ||
| ENST00000324559.8:c.817C>T | ENSP00000315371.8:p.Leu273Phe | |
| NM_001142649.1:c.814C>T | NP_001136121.1:p.Leu272Phe | |
| NM_213599.2:c.817C>T , LRG_868t1:c.817C>T | NP_998764.1:p.Leu273Phe | |
| XM_005252820.2:c.775C>T | XP_005252877.2:p.Leu259Phe | |
| XM_005252821.2:c.772C>T | XP_005252878.2:p.Leu258Phe | |
| XM_005252822.3:c.739C>T | XP_005252879.1:p.Leu247Phe | |
| XM_005252823.3:c.736C>T | XP_005252880.1:p.Leu246Phe | |
| XM_011519949.1:c.724C>T | XP_011518251.1:p.Leu242Phe | |
| XM_005252820.3:c.775C>T | XP_005252877.2:p.Leu259Phe | |
| XM_005252821.3:c.772C>T | XP_005252878.2:p.Leu258Phe | |
| XM_005252822.4:c.739C>T | XP_005252879.1:p.Leu247Phe | |
| XM_011519949.2:c.724C>T | XP_011518251.1:p.Leu242Phe | |
| NM_001142649.2:c.814C>T | NP_001136121.1:p.Leu272Phe | |
| NM_213599.3:c.817C>T MANE Select | NP_998764.1:p.Leu273Phe |