Linked Data
dbSNP Id:
rs749425512
ExAC:
10:79769770 C / A
gnomAD v2:
10-79769770-C-A
gnomAD v4:
10-78010012-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.78010012C>A , CM000672.2:g.78010012C>A | GRCh38 |
| NC_000010.10:g.79769770C>A , CM000672.1:g.79769770C>A | GRCh37 |
| NC_000010.9:g.79439776C>A | NCBI36 |
| NG_029648.1:g.24529G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698728.1:n.1222-21G>T | ||
| ENST00000698729.1:n.2768-21G>T | ||
| ENST00000698730.1:n.2768-21G>T | ||
| ENST00000698731.1:c.1502-21G>T | ENSP00000513898.1:n.1502-21G>T | |
| ENST00000698732.1:c.*504-21G>T | ENSP00000513899.1:n.*504-21G>T | |
| ENST00000698733.1:c.*830-21G>T | ENSP00000513900.1:n.*830-21G>T | |
| ENST00000698734.1:c.1643-21G>T | ENSP00000513901.1:n.1643-21G>T | |
| ENST00000698735.1:n.1758-21G>T | ||
| ENST00000698736.1:n.1758-21G>T | ||
| ENST00000698737.1:n.1758-21G>T | ||
| ENST00000698738.1:n.1758-21G>T | ||
| ENST00000698739.1:n.1758-21G>T | ||
| ENST00000372371.8:c.1643-21G>T MANE Select | ENSP00000361446.3:n.1643-21G>T | |
| ENST00000372371.7:c.1643-21G>T | ENSP00000361446.3:n.1643-21G>T | |
| ENST00000473588.2:c.445-21G>T | ||
| NM_007055.3:c.1643-21G>T | NP_008986.2:n.1643-21G>T | |
| NM_007055.4:c.1643-21G>T MANE Select | NP_008986.2:n.1643-21G>T |