Linked Data
ClinVar Variation Id:
2890925
ClinVar RCV Id:
RCV003760198
dbSNP Id:
rs1005142053
gnomAD v2:
9-133355851-C-A
gnomAD v3:
9-130480464-C-A
gnomAD v4:
9-130480464-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130480464C>A , CM000671.2:g.130480464C>A | GRCh38 |
| NC_000009.11:g.133355851C>A , CM000671.1:g.133355851C>A | GRCh37 |
| NC_000009.10:g.132345672C>A | NCBI36 |
| NG_011542.1:g.40758C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352480.10:c.838+15C>A MANE Select | ENSP00000253004.6:n.838+15C>A | |
| ENST00000352480.9:c.838+15C>A | ENSP00000253004.6:n.838+15C>A | |
| ENST00000372386.6:n.109+15C>A | ||
| ENST00000372393.7:c.838+15C>A | ENSP00000361469.2:n.838+15C>A | |
| ENST00000372394.5:c.838+15C>A | ENSP00000361471.1:n.838+15C>A | |
| ENST00000470849.4:n.563+15C>A | ||
| ENST00000492400.5:n.347+15C>A | ||
| ENST00000493984.6:n.615+15C>A | ||
| NM_000050.4:c.838+15C>A | NP_000041.2:n.838+15C>A | |
| NM_054012.3:c.838+15C>A | NP_446464.1:n.838+15C>A | |
| XM_005272200.2:c.838+15C>A | XP_005272257.1:n.838+15C>A | |
| XM_011518705.1:c.952+15C>A | XP_011517007.1:n.952+15C>A | |
| XM_005272200.3:c.838+15C>A | XP_005272257.1:n.838+15C>A | |
| XM_011518705.2:c.952+15C>A | XP_011517007.1:n.952+15C>A | |
| XM_017014729.1:c.934+15C>A | XP_016870218.1:n.934+15C>A | |
| NM_054012.4:c.838+15C>A MANE Select | NP_446464.1:n.838+15C>A |