Linked Data
ClinVar Variation Id:
1165815
ClinVar RCV Id:
RCV001513267
dbSNP Id:
rs327
gnomAD v2:
8-19819536-T-G
gnomAD v3:
8-19962025-T-G
gnomAD v4:
8-19962025-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19962025T>G , CM000670.2:g.19962025T>G | GRCh38 |
| NC_000008.10:g.19819536T>G , CM000670.1:g.19819536T>G | GRCh37 |
| NC_000008.9:g.19863816T>G | NCBI36 |
| NG_008855.1:g.27955T>G | |
| NG_008855.2:g.65309T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.1323-90T>G MANE Select | ENSP00000497642.1:n.1323-90T>G | |
| ENST00000650478.1:c.263-90T>G | ENSP00000497560.1:n.263-90T>G | |
| ENST00000311322.8:c.1323-90T>G | ENSP00000309757.6:n.1323-90T>G | |
| NM_000237.2:c.1323-90T>G | NP_000228.1:n.1323-90T>G | |
| NM_000237.3:c.1323-90T>G MANE Select | NP_000228.1:n.1323-90T>G |