Linked Data
ClinVar Variation Id:
284694
dbSNP Id:
rs886042923
gnomAD v2:
11-22281154-A-G
gnomAD v4:
11-22259608-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22259608A>G , CM000673.2:g.22259608A>G | GRCh38 |
| NC_000011.9:g.22281154A>G , CM000673.1:g.22281154A>G | GRCh37 |
| NC_000011.8:g.22237730A>G | NCBI36 |
| NG_015844.1:g.71433A>G , LRG_868:g.71433A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682266.1:c.1047A>G | ENSP00000507766.1:p.Ala349= | |
| ENST00000682341.1:c.1455A>G | ENSP00000508251.1:p.Ala485= | |
| ENST00000683197.1:c.1455A>G | ENSP00000507641.1:p.Ala485= | |
| ENST00000683411.1:c.1047A>G | ENSP00000508397.1:p.Ala349= | |
| ENST00000683437.1:c.1047A>G | ENSP00000508408.1:p.Ala349= | |
| ENST00000683613.1:n.2491A>G | ||
| ENST00000684663.1:c.1452A>G | ENSP00000508009.1:p.Ala484= | |
| ENST00000324559.9:c.1497A>G MANE Select | ENSP00000315371.9:p.Ala499= | |
| ENST00000648804.1:n.1832A>G | ||
| ENST00000324559.8:c.1497A>G | ENSP00000315371.8:p.Ala499= | |
| NM_001142649.1:c.1494A>G | NP_001136121.1:p.Ala498= | |
| NM_213599.2:c.1497A>G , LRG_868t1:c.1497A>G | NP_998764.1:p.Ala499= | |
| XM_005252820.2:c.1455A>G | XP_005252877.2:p.Ala485= | |
| XM_005252821.2:c.1452A>G | XP_005252878.2:p.Ala484= | |
| XM_005252822.3:c.1419A>G | XP_005252879.1:p.Ala473= | |
| XM_005252823.3:c.1416A>G | XP_005252880.1:p.Ala472= | |
| XM_011519949.1:c.1404A>G | XP_011518251.1:p.Ala468= | |
| XM_005252820.3:c.1455A>G | XP_005252877.2:p.Ala485= | |
| XM_005252821.3:c.1452A>G | XP_005252878.2:p.Ala484= | |
| XM_005252822.4:c.1419A>G | XP_005252879.1:p.Ala473= | |
| XM_011519949.2:c.1404A>G | XP_011518251.1:p.Ala468= | |
| NM_001142649.2:c.1494A>G | NP_001136121.1:p.Ala498= | |
| NM_213599.3:c.1497A>G MANE Select | NP_998764.1:p.Ala499= |