Linked Data
ClinVar Variation Id:
288277
dbSNP Id:
rs755092814
ExAC:
11:22271825 T / C
gnomAD v2:
11-22271825-T-C
gnomAD v3:
11-22250279-T-C
gnomAD v4:
11-22250279-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22250279T>C , CM000673.2:g.22250279T>C | GRCh38 |
| NC_000011.9:g.22271825T>C , CM000673.1:g.22271825T>C | GRCh37 |
| NC_000011.8:g.22228401T>C | NCBI36 |
| NG_015844.1:g.62104T>C , LRG_868:g.62104T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682089.1:n.241T>C | ||
| ENST00000682266.1:c.471T>C | ENSP00000507766.1:p.Leu157= | |
| ENST00000682341.1:c.879T>C | ENSP00000508251.1:p.Leu293= | |
| ENST00000682530.1:c.*853T>C | ENSP00000506805.1:n.*853T>C | |
| ENST00000683197.1:c.879T>C | ENSP00000507641.1:p.Leu293= | |
| ENST00000683411.1:c.471T>C | ENSP00000508397.1:p.Leu157= | |
| ENST00000683437.1:c.471T>C | ENSP00000508408.1:p.Leu157= | |
| ENST00000683613.1:n.1915T>C | ||
| ENST00000683834.1:n.1121T>C | ||
| ENST00000684663.1:c.876T>C | ENSP00000508009.1:p.Leu292= | |
| ENST00000324559.9:c.921T>C MANE Select | ENSP00000315371.9:p.Leu307= | |
| ENST00000648804.1:n.1256T>C | ||
| ENST00000324559.8:c.921T>C | ENSP00000315371.8:p.Leu307= | |
| NM_001142649.1:c.918T>C | NP_001136121.1:p.Leu306= | |
| NM_213599.2:c.921T>C , LRG_868t1:c.921T>C | NP_998764.1:p.Leu307= | |
| XM_005252820.2:c.879T>C | XP_005252877.2:p.Leu293= | |
| XM_005252821.2:c.876T>C | XP_005252878.2:p.Leu292= | |
| XM_005252822.3:c.843T>C | XP_005252879.1:p.Leu281= | |
| XM_005252823.3:c.840T>C | XP_005252880.1:p.Leu280= | |
| XM_011519949.1:c.828T>C | XP_011518251.1:p.Leu276= | |
| XM_005252820.3:c.879T>C | XP_005252877.2:p.Leu293= | |
| XM_005252821.3:c.876T>C | XP_005252878.2:p.Leu292= | |
| XM_005252822.4:c.843T>C | XP_005252879.1:p.Leu281= | |
| XM_011519949.2:c.828T>C | XP_011518251.1:p.Leu276= | |
| NM_001142649.2:c.918T>C | NP_001136121.1:p.Leu306= | |
| NM_213599.3:c.921T>C MANE Select | NP_998764.1:p.Leu307= |