Linked Data
ClinVar Variation Id:
138115
dbSNP Id:
rs202148793
ExAC:
10:95557041 A / C
gnomAD v2:
10-95557041-A-C
gnomAD v3:
10-93797284-A-C
gnomAD v4:
10-93797284-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.93797284A>C , CM000672.2:g.93797284A>C | GRCh38 |
| NC_000010.10:g.95557041A>C , CM000672.1:g.95557041A>C | GRCh37 |
| NC_000010.9:g.95547031A>C | NCBI36 |
| NG_011832.1:g.44476A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371418.9:c.1155A>C MANE Select | ENSP00000360472.4:p.Leu385= | |
| ENST00000485458.3:n.5131A>C | ||
| ENST00000635804.1:n.589A>C | ||
| ENST00000635953.1:c.*577A>C | ENSP00000490058.1:n.*577A>C | |
| ENST00000636155.1:c.838+3934A>C | ENSP00000490355.1:n.838+3934A>C | |
| ENST00000636232.1:c.*941A>C | ENSP00000490325.1:n.*941A>C | |
| ENST00000636754.1:c.*997A>C | ENSP00000489781.1:n.*997A>C | |
| ENST00000636946.1:c.*1008-465A>C | ENSP00000490654.1:n.*1008-465A>C | |
| ENST00000637037.1:c.*745A>C | ENSP00000490860.1:n.*745A>C | |
| ENST00000637347.1:n.1016A>C | ||
| ENST00000637611.1:c.*711A>C | ENSP00000489682.1:n.*711A>C | |
| ENST00000637689.1:c.-217A>C | ENSP00000490496.1:n.-217A>C | |
| ENST00000637925.1:c.*750A>C | ENSP00000489763.1:n.*750A>C | |
| ENST00000638049.1:c.*913A>C | ENSP00000490597.1:n.*913A>C | |
| ENST00000676175.1:n.2894A>C | ||
| ENST00000371413.4:c.839-465A>C | ENSP00000360467.3:n.839-465A>C | |
| ENST00000371418.8:c.1155A>C | ENSP00000360472.4:p.Leu385= | |
| ENST00000626307.1:n.5070A>C | ||
| ENST00000627420.2:c.*864A>C | ENSP00000487116.1:n.*864A>C | |
| ENST00000629035.2:c.1083A>C | ENSP00000486908.1:p.Leu361= | |
| ENST00000630047.2:c.1011A>C | ENSP00000485917.1:p.Leu337= | |
| NM_001308275.1:c.839-465A>C | NP_001295204.1:n.839-465A>C | |
| NM_001308276.1:c.1011A>C | NP_001295205.1:p.Leu337= | |
| NM_005097.2:c.1155A>C | NP_005088.1:p.Leu385= | |
| NM_005097.3:c.1155A>C | NP_005088.1:p.Leu385= | |
| NR_131777.1:n.1419A>C | ||
| XM_017016912.2:c.695-465A>C | XP_016872401.1:n.695-465A>C | |
| NM_005097.4:c.1155A>C MANE Select | NP_005088.1:p.Leu385= | |
| NM_001308275.2:c.839-465A>C | NP_001295204.1:n.839-465A>C | |
| NM_001308276.2:c.1011A>C | NP_001295205.1:p.Leu337= | |
| NR_131777.2:n.1292A>C |