Linked Data
dbSNP Id:
rs751623882
ExAC:
10:96540416 G / A
gnomAD v2:
10-96540416-G-A
gnomAD v3:
10-94780659-G-A
gnomAD v4:
10-94780659-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94780659G>A , CM000672.2:g.94780659G>A | GRCh38 |
| NC_000010.10:g.96540416G>A , CM000672.1:g.96540416G>A | GRCh37 |
| NC_000010.9:g.96530406G>A | NCBI36 |
| NG_008384.2:g.22954G>A | |
| NG_008384.3:g.22979G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371321.9:c.642G>A MANE Select | ENSP00000360372.3:p.Gln214= | |
| ENST00000645461.1:n.1695G>A | ||
| ENST00000371321.7:c.642G>A | ENSP00000360372.3:p.Gln214= | |
| ENST00000464755.1:c.1405G>A | ENSP00000483243.1:n.1405G>A | |
| NM_000769.2:c.642G>A | NP_000760.1:p.Gln214= | |
| NM_000769.4:c.642G>A MANE Select | NP_000760.1:p.Gln214= |