Linked Data
ClinVar Variation Id:
138113
dbSNP Id:
rs146425212
ExAC:
10:95552986 A / C
gnomAD v2:
10-95552986-A-C
gnomAD v3:
10-93793229-A-C
gnomAD v4:
10-93793229-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.93793229A>C , CM000672.2:g.93793229A>C | GRCh38 |
| NC_000010.10:g.95552986A>C , CM000672.1:g.95552986A>C | GRCh37 |
| NC_000010.9:g.95542976A>C | NCBI36 |
| NG_011832.1:g.40421A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371418.9:c.717A>C MANE Select | ENSP00000360472.4:p.Ile239= | |
| ENST00000485458.3:n.4693A>C | ||
| ENST00000635953.1:c.717A>C | ENSP00000490058.1:p.Ile239= | |
| ENST00000636155.1:c.717A>C | ENSP00000490355.1:p.Ile239= | |
| ENST00000636232.1:c.*503A>C | ENSP00000490325.1:n.*503A>C | |
| ENST00000636754.1:c.*559A>C | ENSP00000489781.1:n.*559A>C | |
| ENST00000636946.1:c.*886A>C | ENSP00000490654.1:n.*886A>C | |
| ENST00000637037.1:c.*307A>C | ENSP00000490860.1:n.*307A>C | |
| ENST00000637347.1:n.578A>C | ||
| ENST00000637611.1:c.*273A>C | ENSP00000489682.1:n.*273A>C | |
| ENST00000637689.1:c.-655A>C | ENSP00000490496.1:n.-655A>C | |
| ENST00000637925.1:c.*312A>C | ENSP00000489763.1:n.*312A>C | |
| ENST00000638049.1:c.*475A>C | ENSP00000490597.1:n.*475A>C | |
| ENST00000676175.1:n.2456A>C | ||
| ENST00000371413.4:c.717A>C | ENSP00000360467.3:p.Ile239= | |
| ENST00000371418.8:c.717A>C | ENSP00000360472.4:p.Ile239= | |
| ENST00000626307.1:n.4632A>C | ||
| ENST00000626946.1:n.387A>C | ||
| ENST00000627420.2:c.*426A>C | ENSP00000487116.1:n.*426A>C | |
| ENST00000629035.2:c.645A>C | ENSP00000486908.1:p.Ile215= | |
| ENST00000630047.2:c.573A>C | ENSP00000485917.1:p.Ile191= | |
| ENST00000630412.1:n.505A>C | ||
| ENST00000630487.2:c.*507A>C | ENSP00000486859.1:n.*507A>C | |
| NM_001308275.1:c.717A>C | NP_001295204.1:p.Ile239= | |
| NM_001308276.1:c.573A>C | NP_001295205.1:p.Ile191= | |
| NM_005097.2:c.717A>C | NP_005088.1:p.Ile239= | |
| NM_005097.3:c.717A>C | NP_005088.1:p.Ile239= | |
| NR_131777.1:n.981A>C | ||
| XM_017016911.2:c.717A>C | XP_016872400.1:p.Ile239= | |
| XM_017016912.2:c.573A>C | XP_016872401.1:p.Ile191= | |
| NM_005097.4:c.717A>C MANE Select | NP_005088.1:p.Ile239= | |
| NM_001308275.2:c.717A>C | NP_001295204.1:p.Ile239= | |
| NM_001308276.2:c.573A>C | NP_001295205.1:p.Ile191= | |
| NR_131777.2:n.854A>C |