Linked Data
dbSNP Id:
rs10824310
gnomAD v2:
10-54028464-C-T
gnomAD v3:
10-52268704-C-T
gnomAD v4:
10-52268704-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.52268704C>T , CM000672.2:g.52268704C>T | GRCh38 |
| NC_000010.10:g.54028464C>T , CM000672.1:g.54028464C>T | GRCh37 |
| NC_000010.9:g.53698470C>T | NCBI36 |
| NG_029982.1:g.1282554C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000373975.3:n.533-2646C>T | ||
| ENST00000373980.11:c.1174-2646C>T MANE Select | ENSP00000363092.5:n.1174-2646C>T | |
| ENST00000401604.8:c.1129-2646C>T | ENSP00000384200.4:n.1129-2646C>T | |
| ENST00000672084.1:c.325-2646C>T | ENSP00000499822.1:n.325-2646C>T | |
| ENST00000373975.2:n.623-2646C>T | ||
| ENST00000373980.8:c.1174-2646C>T | ENSP00000363092.4:n.1174-2646C>T | |
| ENST00000373985.5:c.1129-2646C>T | ENSP00000363097.2:n.1129-2646C>T | |
| ENST00000401604.6:c.493-2646C>T | ENSP00000384200.3:n.493-2646C>T | |
| NM_001098512.2:c.1129-2646C>T | NP_001091982.1:n.1129-2646C>T | |
| NM_006258.3:c.1174-2646C>T | NP_006249.1:n.1174-2646C>T | |
| XM_005269972.3:c.325-2646C>T | XP_005270029.1:n.325-2646C>T | |
| NM_001098512.3:c.1129-2646C>T | NP_001091982.1:n.1129-2646C>T | |
| NM_006258.4:c.1174-2646C>T MANE Select | NP_006249.1:n.1174-2646C>T | |
| XM_017016412.1:c.889-2646C>T | XP_016871901.1:n.889-2646C>T | |
| XM_017016413.1:c.871-2646C>T | XP_016871902.1:n.871-2646C>T | |
| XM_024448078.1:c.-36-2646C>T | XP_024303846.1:n.-36-2646C>T | |
| NM_001374781.1:c.-36-2646C>T | NP_001361710.1:n.-36-2646C>T |