Linked Data
dbSNP Id:
rs78258427
gnomAD v2:
10-96540219-G-A
gnomAD v4:
10-94780462-G-A
MyVariant Identifiers:
chr10:g.96540219G>A (hg19)
chr10:g.96540219_96540220delinsAT (hg19)
chr10:g.94780462G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94780462G>A , CM000672.2:g.94780462G>A | GRCh38 |
| NC_000010.10:g.96540219G>A , CM000672.1:g.96540219G>A | GRCh37 |
| NC_000010.9:g.96530209G>A | NCBI36 |
| NG_008384.2:g.22757G>A | |
| NG_008384.3:g.22782G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371321.9:c.482-37G>A MANE Select | ENSP00000360372.3:n.482-37G>A | |
| ENST00000645461.1:n.1535-37G>A | ||
| ENST00000371321.7:c.482-37G>A | ENSP00000360372.3:n.482-37G>A | |
| ENST00000464755.1:c.1245-37G>A | ENSP00000483243.1:n.1245-37G>A | |
| NM_000769.2:c.482-37G>A | NP_000760.1:n.482-37G>A | |
| NM_000769.4:c.482-37G>A MANE Select | NP_000760.1:n.482-37G>A |