Linked Data
ClinVar Variation Id:
362655
ClinVar RCV Id:
RCV000294346
dbSNP Id:
rs886062838
gnomAD v3:
8-25423471-C-T
gnomAD v4:
8-25423471-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.25423471C>T , CM000670.2:g.25423471C>T | GRCh38 |
| NC_000008.10:g.25280987C>T , CM000670.1:g.25280987C>T | GRCh37 |
| NC_000008.9:g.25336904C>T | NCBI36 |
| NG_016457.1:g.6570G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000421054.7:c.-1-140G>A MANE Select | ENSP00000391280.2:n.-1-140G>A | |
| ENST00000276414.4:c.-141G>A | ENSP00000276414.4:n.-141G>A | |
| ENST00000421054.6:c.-1-140G>A | ENSP00000391280.2:n.-1-140G>A | |
| NM_000825.3:c.-129G>A | NP_000816.4:n.-129G>A | |
| NM_001083111.1:c.-1-140G>A | NP_001076580.1:n.-1-140G>A | |
| NM_001083111.2:c.-1-140G>A MANE Select | NP_001076580.1:n.-1-140G>A |