Linked Data
ClinVar Variation Id:
285474
dbSNP Id:
rs199888040
ExAC:
11:22248853 G / A
gnomAD v2:
11-22248853-G-A
gnomAD v3:
11-22227307-G-A
gnomAD v4:
11-22227307-G-A
COSMIC:
COSM4574278
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22227307G>A , CM000673.2:g.22227307G>A | GRCh38 |
| NC_000011.9:g.22248853G>A , CM000673.1:g.22248853G>A | GRCh37 |
| NC_000011.8:g.22205429G>A | NCBI36 |
| NG_015844.1:g.39132G>A , LRG_868:g.39132G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682266.1:c.-82G>A | ENSP00000507766.1:n.-82G>A | |
| ENST00000682341.1:c.327G>A | ENSP00000508251.1:p.Ser109= | |
| ENST00000682530.1:c.*301G>A | ENSP00000506805.1:n.*301G>A | |
| ENST00000682684.1:n.748G>A | ||
| ENST00000683197.1:c.327G>A | ENSP00000507641.1:p.Ser109= | |
| ENST00000683411.1:c.-82G>A | ENSP00000508397.1:n.-82G>A | |
| ENST00000683437.1:c.-82G>A | ENSP00000508408.1:n.-82G>A | |
| ENST00000683613.1:n.1363G>A | ||
| ENST00000683834.1:n.569G>A | ||
| ENST00000684663.1:c.324G>A | ENSP00000508009.1:p.Ser108= | |
| ENST00000324559.9:c.369G>A MANE Select | ENSP00000315371.9:p.Ser123= | |
| ENST00000648804.1:n.934G>A | ||
| ENST00000324559.8:c.369G>A | ENSP00000315371.8:p.Ser123= | |
| NM_001142649.1:c.366G>A | NP_001136121.1:p.Ser122= | |
| NM_213599.2:c.369G>A , LRG_868t1:c.369G>A | NP_998764.1:p.Ser123= | |
| XM_005252820.2:c.327G>A | XP_005252877.2:p.Ser109= | |
| XM_005252821.2:c.324G>A | XP_005252878.2:p.Ser108= | |
| XM_005252822.3:c.291G>A | XP_005252879.1:p.Ser97= | |
| XM_005252823.3:c.288G>A | XP_005252880.1:p.Ser96= | |
| XM_011519949.1:c.276G>A | XP_011518251.1:p.Ser92= | |
| XM_005252820.3:c.327G>A | XP_005252877.2:p.Ser109= | |
| XM_005252821.3:c.324G>A | XP_005252878.2:p.Ser108= | |
| XM_005252822.4:c.291G>A | XP_005252879.1:p.Ser97= | |
| XM_011519949.2:c.276G>A | XP_011518251.1:p.Ser92= | |
| NM_001142649.2:c.366G>A | NP_001136121.1:p.Ser122= | |
| NM_213599.3:c.369G>A MANE Select | NP_998764.1:p.Ser123= |