Linked Data
ClinVar Variation Id:
283939
dbSNP Id:
rs147121216
ExAC:
11:22257780 G / T
gnomAD v2:
11-22257780-G-T
gnomAD v3:
11-22236234-G-T
gnomAD v4:
11-22236234-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22236234G>T , CM000673.2:g.22236234G>T | GRCh38 |
| NC_000011.9:g.22257780G>T , CM000673.1:g.22257780G>T | GRCh37 |
| NC_000011.8:g.22214356G>T | NCBI36 |
| NG_015844.1:g.48059G>T , LRG_868:g.48059G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682266.1:c.270G>T | ENSP00000507766.1:p.Leu90= | |
| ENST00000682341.1:c.678G>T | ENSP00000508251.1:p.Leu226= | |
| ENST00000682530.1:c.*652G>T | ENSP00000506805.1:n.*652G>T | |
| ENST00000682684.1:n.1099G>T | ||
| ENST00000683197.1:c.678G>T | ENSP00000507641.1:p.Leu226= | |
| ENST00000683411.1:c.270G>T | ENSP00000508397.1:p.Leu90= | |
| ENST00000683437.1:c.270G>T | ENSP00000508408.1:p.Leu90= | |
| ENST00000683613.1:n.1714G>T | ||
| ENST00000683834.1:n.920G>T | ||
| ENST00000684663.1:c.675G>T | ENSP00000508009.1:p.Leu225= | |
| ENST00000324559.9:c.720G>T MANE Select | ENSP00000315371.9:p.Leu240= | |
| ENST00000648804.1:n.1213+8648G>T | ||
| ENST00000324559.8:c.720G>T | ENSP00000315371.8:p.Leu240= | |
| NM_001142649.1:c.717G>T | NP_001136121.1:p.Leu239= | |
| NM_213599.2:c.720G>T , LRG_868t1:c.720G>T | NP_998764.1:p.Leu240= | |
| XM_005252820.2:c.678G>T | XP_005252877.2:p.Leu226= | |
| XM_005252821.2:c.675G>T | XP_005252878.2:p.Leu225= | |
| XM_005252822.3:c.642G>T | XP_005252879.1:p.Leu214= | |
| XM_005252823.3:c.639G>T | XP_005252880.1:p.Leu213= | |
| XM_011519949.1:c.627G>T | XP_011518251.1:p.Leu209= | |
| XM_005252820.3:c.678G>T | XP_005252877.2:p.Leu226= | |
| XM_005252821.3:c.675G>T | XP_005252878.2:p.Leu225= | |
| XM_005252822.4:c.642G>T | XP_005252879.1:p.Leu214= | |
| XM_011519949.2:c.627G>T | XP_011518251.1:p.Leu209= | |
| NM_001142649.2:c.717G>T | NP_001136121.1:p.Leu239= | |
| NM_213599.3:c.720G>T MANE Select | NP_998764.1:p.Leu240= |