Linked Data
ClinVar Variation Id:
2995135
ClinVar RCV Id:
RCV003850742
dbSNP Id:
rs369710274
ExAC:
1:101005419 A / T
gnomAD v2:
1-101005419-A-T
gnomAD v3:
1-100539863-A-T
gnomAD v4:
1-100539863-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.100539863A>T , CM000663.2:g.100539863A>T | GRCh38 |
| NC_000001.10:g.101005419A>T , CM000663.1:g.101005419A>T | GRCh37 |
| NC_000001.9:g.100778007A>T | NCBI36 |
| NG_053134.1:g.6692A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000315033.5:c.897A>T MANE Select | ENSP00000314223.4:p.Pro299= | |
| ENST00000315033.4:c.897A>T | ENSP00000314223.4:p.Pro299= | |
| NM_022049.2:c.897A>T | NP_071332.2:p.Pro299= | |
| NM_022049.3:c.897A>T MANE Select | NP_071332.2:p.Pro299= |