Linked Data
dbSNP Id:
rs1275329168
gnomAD v4:
22-21658430-G-T
MyVariant Identifiers:
chr22:g.22012719G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.21658430G>T , CM000684.2:g.21658430G>T | GRCh38 |
| NC_000022.10:g.22012719G>T , CM000684.1:g.22012719G>T | GRCh37 |
| NC_000022.9:g.20342719G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000641967.1:n.286+41G>T | ||
| ENST00000498589.1:n.507G>T | ||
| XM_017029165.1:c.642G>T | XP_016884654.1:p.Gly214= | |
| NR_169729.1:n.1242G>T | ||
| NR_169730.1:n.1145G>T | ||
| NR_169731.1:n.432-2407G>T | ||
| NR_169732.1:n.296G>T | ||
| NR_169733.1:n.354G>T | ||
| NR_169734.1:n.378G>T |