Linked Data
ClinVar Variation Id:
1948393
ClinVar RCV Id:
RCV002667705
dbSNP Id:
rs1489288093
gnomAD v2:
8-97172500-T-G
gnomAD v4:
8-96160272-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.96160272T>G , CM000670.2:g.96160272T>G | GRCh38 |
| NC_000008.10:g.97172500T>G , CM000670.1:g.97172500T>G | GRCh37 |
| NC_000008.9:g.97241676T>G | NCBI36 |
| NG_008981.1:g.5521A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287020.7:c.406+15A>C MANE Select | ENSP00000287020.4:n.406+15A>C | |
| ENST00000287020.6:c.406+15A>C | ENSP00000287020.4:n.406+15A>C | |
| ENST00000620978.1:c.406+15A>C | ENSP00000480170.1:n.406+15A>C | |
| ENST00000621429.1:c.406+15A>C | ENSP00000483711.1:n.406+15A>C | |
| NM_001001557.2:c.406+15A>C | NP_001001557.1:n.406+15A>C | |
| NM_001001557.3:c.406+15A>C | NP_001001557.1:n.406+15A>C | |
| NM_001001557.4:c.406+15A>C MANE Select | NP_001001557.1:n.406+15A>C |