Linked Data
ClinVar Variation Id:
252462
dbSNP Id:
rs74824159
ExAC:
7:143043349 C / T
gnomAD v2:
7-143043349-C-T
gnomAD v3:
7-143346256-C-T
gnomAD v4:
7-143346256-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143346256C>T , CM000669.2:g.143346256C>T | GRCh38 |
| NC_000007.13:g.143043349C>T , CM000669.1:g.143043349C>T | GRCh37 |
| NC_000007.12:g.142753471C>T | NCBI36 |
| NG_009815.1:g.35131C>T | |
| NG_009815.2:g.35131C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.2284+5C>T | ENSP00000498052.2:n.2284+5C>T | |
| ENST00000343257.7:c.2284+5C>T MANE Select | ENSP00000339867.2:n.2284+5C>T | |
| ENST00000432192.6:c.2108+5C>T | ||
| ENST00000343257.6:c.2284+5C>T | ENSP00000339867.2:n.2284+5C>T | |
| NM_000083.2:c.2284+5C>T | NP_000074.2:n.2284+5C>T | |
| NR_046453.1:n.2224+5C>T | ||
| XM_011515781.1:c.2308+5C>T | XP_011514083.1:n.2308+5C>T | |
| XM_011515782.1:c.1030+5C>T | XP_011514084.1:n.1030+5C>T | |
| XM_011515782.2:c.1030+5C>T | XP_011514084.1:n.1030+5C>T | |
| XM_017011739.1:c.1858+5C>T | XP_016867228.1:n.1858+5C>T | |
| XM_017011740.1:c.1834+5C>T | XP_016867229.1:n.1834+5C>T | |
| NM_000083.3:c.2284+5C>T MANE Select | NP_000074.3:n.2284+5C>T | |
| NR_046453.2:n.2239+5C>T |