Linked Data
ClinVar Variation Id:
2939823
ClinVar RCV Id:
RCV003794989
dbSNP Id:
rs866134593
gnomAD v4:
7-143321359-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143321359C>T , CM000669.2:g.143321359C>T | GRCh38 |
| NC_000007.13:g.143018452C>T , CM000669.1:g.143018452C>T | GRCh37 |
| NC_000007.12:g.142728574C>T | NCBI36 |
| NG_009815.1:g.10234C>T | |
| NG_009815.2:g.10234C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.434-6C>T | ENSP00000498052.2:n.434-6C>T | |
| ENST00000343257.7:c.434-6C>T MANE Select | ENSP00000339867.2:n.434-6C>T | |
| ENST00000432192.6:c.202-6C>T | ||
| ENST00000650516.1:c.434-6C>T | ENSP00000498052.1:n.434-6C>T | |
| ENST00000343257.6:c.434-6C>T | ENSP00000339867.2:n.434-6C>T | |
| NM_000083.2:c.434-6C>T | NP_000074.2:n.434-6C>T | |
| NR_046453.1:n.521-6C>T | ||
| XM_011515781.1:c.434-6C>T | XP_011514083.1:n.434-6C>T | |
| XM_017011739.1:c.141-6C>T | XP_016867228.1:n.141-6C>T | |
| XM_017011740.1:c.141-6C>T | XP_016867229.1:n.141-6C>T | |
| NM_000083.3:c.434-6C>T MANE Select | NP_000074.3:n.434-6C>T | |
| NR_046453.2:n.536-6C>T |