Linked Data
ClinVar Variation Id:
1533419
ClinVar RCV Id:
RCV002102331
dbSNP Id:
rs533095236
gnomAD v2:
22-24108469-G-A
gnomAD v3:
22-23766282-G-A
gnomAD v4:
22-23766282-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.23766282G>A , CM000684.2:g.23766282G>A | GRCh38 |
| NC_000022.10:g.24108469G>A , CM000684.1:g.24108469G>A | GRCh37 |
| NC_000022.9:g.22438469G>A | NCBI36 |
| NG_034223.1:g.6691C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000484558.3:c.262-7C>T MANE Select | ENSP00000418428.3:n.262-7C>T | |
| ENST00000401675.7:c.276C>T | ENSP00000384973.3:p.Tyr92= | |
| ENST00000484558.2:c.262-7C>T | ENSP00000418428.2:n.262-7C>T | |
| ENST00000517886.1:c.209-7C>T | ENSP00000429976.1:n.209-7C>T | |
| ENST00000520222.1:c.42-7C>T | ENSP00000430042.1:n.42-7C>T | |
| ENST00000523865.1:n.183C>T | ||
| NM_001301339.1:c.276C>T | NP_001288268.1:p.Tyr92= | |
| NM_213720.2:c.262-7C>T | NP_998885.1:n.262-7C>T | |
| NR_125755.1:n.307-7C>T | ||
| NR_125756.1:n.140-7C>T | ||
| NM_001301339.2:c.276C>T | NP_001288268.1:p.Tyr92= | |
| NM_213720.3:c.262-7C>T MANE Select | NP_998885.1:n.262-7C>T | |
| NR_125755.2:n.307-7C>T | ||
| NR_125756.2:n.140-7C>T |