Linked Data
ClinVar Variation Id:
367250
dbSNP Id:
rs7026304
gnomAD v2:
9-75231370-A-G
gnomAD v3:
9-72616454-A-G
gnomAD v4:
9-72616454-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.72616454A>G , CM000671.2:g.72616454A>G | GRCh38 |
| NC_000009.11:g.75231370A>G , CM000671.1:g.75231370A>G | GRCh37 |
| NC_000009.10:g.74421190A>G | NCBI36 |
| NG_008213.1:g.99654A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000297784.10:c.-219A>G MANE Select | ENSP00000297784.6:n.-219A>G | |
| ENST00000643676.1:n.393A>G | ||
| ENST00000645053.1:c.-463A>G | ENSP00000493838.1:n.-463A>G | |
| ENST00000645208.2:c.-219A>G | ENSP00000494684.1:n.-219A>G | |
| ENST00000645773.1:c.-219A>G | ENSP00000493698.1:n.-219A>G | |
| ENST00000646244.1:n.300A>G | ||
| ENST00000650689.1:n.274A>G | ||
| ENST00000651183.1:c.-320A>G | ENSP00000498723.1:n.-320A>G | |
| ENST00000651743.1:n.324A>G | ||
| ENST00000297784.9:c.-219A>G | ENSP00000297784.5:n.-219A>G | |
| ENST00000340019.4:c.-219A>G | ENSP00000341433.3:n.-219A>G | |
| ENST00000497073.1:n.335A>G | ||
| NM_138691.2:c.-219A>G | NP_619636.2:n.-219A>G | |
| XM_011518213.1:c.415-8261A>G | XP_011516515.1:n.415-8261A>G | |
| XM_017014256.1:c.-5A>G | XP_016869745.1:n.-5A>G | |
| NM_138691.3:c.-219A>G MANE Select | NP_619636.2:n.-219A>G |