Linked Data
ClinVar Variation Id:
2893929
ClinVar RCV Id:
RCV003733059
dbSNP Id:
rs767781046
ExAC:
8:87751976 A / T
gnomAD v2:
8-87751976-A-T
gnomAD v4:
8-86739748-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86739748A>T , CM000670.2:g.86739748A>T | GRCh38 |
| NC_000008.10:g.87751976A>T , CM000670.1:g.87751976A>T | GRCh37 |
| NC_000008.9:g.87821092A>T | NCBI36 |
| NG_016980.1:g.8928T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.130-12T>A MANE Select | ENSP00000316605.5:n.130-12T>A | |
| ENST00000681746.1:c.130-12T>A | ENSP00000505959.1:n.130-12T>A | |
| ENST00000320005.5:c.130-12T>A | ENSP00000316605.5:n.130-12T>A | |
| ENST00000519777.1:n.112-12T>A | ||
| NM_019098.4:c.130-12T>A | NP_061971.3:n.130-12T>A | |
| NM_019098.5:c.130-12T>A MANE Select | NP_061971.3:n.130-12T>A |