Linked Data
dbSNP Id:
rs1426732429
gnomAD v2:
7-143038879-C-T
gnomAD v3:
7-143341786-C-T
gnomAD v4:
7-143341786-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143341786C>T , CM000669.2:g.143341786C>T | GRCh38 |
| NC_000007.13:g.143038879C>T , CM000669.1:g.143038879C>T | GRCh37 |
| NC_000007.12:g.142749001C>T | NCBI36 |
| NG_009815.1:g.30661C>T | |
| NG_009815.2:g.30661C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.1583-143C>T | ENSP00000498052.2:n.1583-143C>T | |
| ENST00000343257.7:c.1583-143C>T MANE Select | ENSP00000339867.2:n.1583-143C>T | |
| ENST00000432192.6:c.1407-143C>T | ||
| ENST00000343257.6:c.1583-143C>T | ENSP00000339867.2:n.1583-143C>T | |
| NM_000083.2:c.1583-143C>T | NP_000074.2:n.1583-143C>T | |
| NR_046453.1:n.1523-143C>T | ||
| XM_011515781.1:c.1607-143C>T | XP_011514083.1:n.1607-143C>T | |
| XM_011515782.1:c.329-143C>T | XP_011514084.1:n.329-143C>T | |
| XM_011515782.2:c.329-143C>T | XP_011514084.1:n.329-143C>T | |
| XM_017011739.1:c.1157-143C>T | XP_016867228.1:n.1157-143C>T | |
| XM_017011740.1:c.1133-143C>T | XP_016867229.1:n.1133-143C>T | |
| NM_000083.3:c.1583-143C>T MANE Select | NP_000074.3:n.1583-143C>T | |
| NR_046453.2:n.1538-143C>T |