Linked Data
ClinVar Variation Id:
2163
dbSNP Id:
rs137854524
ExAC:
11:22277031 C / G
gnomAD v2:
11-22277031-C-G
gnomAD v3:
11-22255485-C-G
gnomAD v4:
11-22255485-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22255485C>G , CM000673.2:g.22255485C>G | GRCh38 |
| NC_000011.9:g.22277031C>G , CM000673.1:g.22277031C>G | GRCh37 |
| NC_000011.8:g.22233607C>G | NCBI36 |
| NG_015844.1:g.67310C>G , LRG_868:g.67310C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682089.1:n.615C>G | ||
| ENST00000682266.1:c.845C>G | ENSP00000507766.1:p.Ala282Gly | |
| ENST00000682341.1:c.1253C>G | ENSP00000508251.1:p.Ala418Gly | |
| ENST00000682530.1:c.*1227C>G | ENSP00000506805.1:n.*1227C>G | |
| ENST00000683197.1:c.1253C>G | ENSP00000507641.1:p.Ala418Gly | |
| ENST00000683411.1:c.845C>G | ENSP00000508397.1:p.Ala282Gly | |
| ENST00000683437.1:c.845C>G | ENSP00000508408.1:p.Ala282Gly | |
| ENST00000683613.1:n.2289C>G | ||
| ENST00000683834.1:n.1495C>G | ||
| ENST00000684663.1:c.1250C>G | ENSP00000508009.1:p.Ala417Gly | |
| ENST00000324559.9:c.1295C>G MANE Select | ENSP00000315371.9:p.Ala432Gly | |
| ENST00000648804.1:n.1630C>G | ||
| ENST00000324559.8:c.1295C>G | ENSP00000315371.8:p.Ala432Gly | |
| NM_001142649.1:c.1292C>G | NP_001136121.1:p.Ala431Gly | |
| NM_213599.2:c.1295C>G , LRG_868t1:c.1295C>G | NP_998764.1:p.Ala432Gly | |
| XM_005252820.2:c.1253C>G | XP_005252877.2:p.Ala418Gly | |
| XM_005252821.2:c.1250C>G | XP_005252878.2:p.Ala417Gly | |
| XM_005252822.3:c.1217C>G | XP_005252879.1:p.Ala406Gly | |
| XM_005252823.3:c.1214C>G | XP_005252880.1:p.Ala405Gly | |
| XM_011519949.1:c.1202C>G | XP_011518251.1:p.Ala401Gly | |
| XM_005252820.3:c.1253C>G | XP_005252877.2:p.Ala418Gly | |
| XM_005252821.3:c.1250C>G | XP_005252878.2:p.Ala417Gly | |
| XM_005252822.4:c.1217C>G | XP_005252879.1:p.Ala406Gly | |
| XM_011519949.2:c.1202C>G | XP_011518251.1:p.Ala401Gly | |
| NM_001142649.2:c.1292C>G | NP_001136121.1:p.Ala431Gly | |
| NM_213599.3:c.1295C>G MANE Select | NP_998764.1:p.Ala432Gly |