Linked Data
dbSNP Id:
rs572997878
gnomAD v2:
10-95552785-T-A
gnomAD v3:
10-93793028-T-A
gnomAD v4:
10-93793028-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.93793028T>A , CM000672.2:g.93793028T>A | GRCh38 |
| NC_000010.10:g.95552785T>A , CM000672.1:g.95552785T>A | GRCh37 |
| NC_000010.9:g.95542775T>A | NCBI36 |
| NG_011832.1:g.40220T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371418.9:c.673+116T>A MANE Select | ENSP00000360472.4:n.673+116T>A | |
| ENST00000485458.3:n.4649+116T>A | ||
| ENST00000635953.1:c.673+116T>A | ENSP00000490058.1:n.673+116T>A | |
| ENST00000636155.1:c.673+116T>A | ENSP00000490355.1:n.673+116T>A | |
| ENST00000636232.1:c.*459+116T>A | ENSP00000490325.1:n.*459+116T>A | |
| ENST00000636754.1:c.*515+116T>A | ENSP00000489781.1:n.*515+116T>A | |
| ENST00000636946.1:c.*842+116T>A | ENSP00000490654.1:n.*842+116T>A | |
| ENST00000637037.1:c.*263+116T>A | ENSP00000490860.1:n.*263+116T>A | |
| ENST00000637347.1:n.534+116T>A | ||
| ENST00000637611.1:c.*229+116T>A | ENSP00000489682.1:n.*229+116T>A | |
| ENST00000637689.1:c.-699+116T>A | ENSP00000490496.1:n.-699+116T>A | |
| ENST00000637925.1:c.*268+116T>A | ENSP00000489763.1:n.*268+116T>A | |
| ENST00000638049.1:c.*431+116T>A | ENSP00000490597.1:n.*431+116T>A | |
| ENST00000676175.1:n.2412+116T>A | ||
| ENST00000371413.4:c.673+116T>A | ENSP00000360467.3:n.673+116T>A | |
| ENST00000371418.8:c.673+116T>A | ENSP00000360472.4:n.673+116T>A | |
| ENST00000626307.1:n.4588+116T>A | ||
| ENST00000626946.1:n.186T>A | ||
| ENST00000627420.2:c.*382+116T>A | ENSP00000487116.1:n.*382+116T>A | |
| ENST00000629035.2:c.601+116T>A | ENSP00000486908.1:n.601+116T>A | |
| ENST00000630047.2:c.529+116T>A | ENSP00000485917.1:n.529+116T>A | |
| ENST00000630412.1:n.461+116T>A | ||
| ENST00000630487.2:c.*463+116T>A | ENSP00000486859.1:n.*463+116T>A | |
| NM_001308275.1:c.673+116T>A | NP_001295204.1:n.673+116T>A | |
| NM_001308276.1:c.529+116T>A | NP_001295205.1:n.529+116T>A | |
| NM_005097.2:c.673+116T>A | NP_005088.1:n.673+116T>A | |
| NM_005097.3:c.673+116T>A | NP_005088.1:n.673+116T>A | |
| NR_131777.1:n.937+116T>A | ||
| XM_017016911.2:c.673+116T>A | XP_016872400.1:n.673+116T>A | |
| XM_017016912.2:c.529+116T>A | XP_016872401.1:n.529+116T>A | |
| NM_005097.4:c.673+116T>A MANE Select | NP_005088.1:n.673+116T>A | |
| NM_001308275.2:c.673+116T>A | NP_001295204.1:n.673+116T>A | |
| NM_001308276.2:c.529+116T>A | NP_001295205.1:n.529+116T>A | |
| NR_131777.2:n.810+116T>A |