Linked Data
ClinVar Variation Id:
283987
ClinVar RCV Id:
RCV000358506
dbSNP Id:
rs886042760
gnomAD v2:
11-22294500-C-A
gnomAD v4:
11-22272954-C-A
COSMIC:
COSM278873
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22272954C>A , CM000673.2:g.22272954C>A | GRCh38 |
| NC_000011.9:g.22294500C>A , CM000673.1:g.22294500C>A | GRCh37 |
| NC_000011.8:g.22251076C>A | NCBI36 |
| NG_015844.1:g.84779C>A , LRG_868:g.84779C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000532043.2:n.217C>A | ||
| ENST00000682266.1:c.1750C>A | ENSP00000507766.1:p.Leu584Ile | |
| ENST00000682341.1:c.2158C>A | ENSP00000508251.1:p.Leu720Ile | |
| ENST00000683197.1:c.2158C>A | ENSP00000507641.1:p.Leu720Ile | |
| ENST00000683411.1:c.1750C>A | ENSP00000508397.1:p.Leu584Ile | |
| ENST00000683437.1:c.1750C>A | ENSP00000508408.1:p.Leu584Ile | |
| ENST00000683613.1:n.3194C>A | ||
| ENST00000684663.1:c.2155C>A | ENSP00000508009.1:p.Leu719Ile | |
| ENST00000324559.9:c.2200C>A MANE Select | ENSP00000315371.9:p.Leu734Ile | |
| ENST00000648804.1:n.2535C>A | ||
| ENST00000324559.8:c.2200C>A | ENSP00000315371.8:p.Leu734Ile | |
| ENST00000532043.1:n.217C>A | ||
| NM_001142649.1:c.2197C>A | NP_001136121.1:p.Leu733Ile | |
| NM_213599.2:c.2200C>A , LRG_868t1:c.2200C>A | NP_998764.1:p.Leu734Ile | |
| XM_005252820.2:c.2158C>A | XP_005252877.2:p.Leu720Ile | |
| XM_005252821.2:c.2155C>A | XP_005252878.2:p.Leu719Ile | |
| XM_005252822.3:c.2122C>A | XP_005252879.1:p.Leu708Ile | |
| XM_005252823.3:c.2119C>A | XP_005252880.1:p.Leu707Ile | |
| XM_011519949.1:c.2107C>A | XP_011518251.1:p.Leu703Ile | |
| XM_005252820.3:c.2158C>A | XP_005252877.2:p.Leu720Ile | |
| XM_005252821.3:c.2155C>A | XP_005252878.2:p.Leu719Ile | |
| XM_005252822.4:c.2122C>A | XP_005252879.1:p.Leu708Ile | |
| XM_011519949.2:c.2107C>A | XP_011518251.1:p.Leu703Ile | |
| NM_001142649.2:c.2197C>A | NP_001136121.1:p.Leu733Ile | |
| NM_213599.3:c.2200C>A MANE Select | NP_998764.1:p.Leu734Ile |