Linked Data
dbSNP Id:
rs1428966359
gnomAD v2:
22-32870726-T-A
gnomAD v3:
22-32474739-T-A
gnomAD v4:
22-32474739-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.32474739T>A , CM000684.2:g.32474739T>A | GRCh38 |
| NC_000022.10:g.32870726T>A , CM000684.1:g.32870726T>A | GRCh37 |
| NC_000022.9:g.31200726T>A | NCBI36 |
| NG_016001.1:g.5020T>A | |
| NG_016001.2:g.5020T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266087.11:c.-264T>A | ENSP00000266087.7:n.-264T>A | |
| ENST00000420700.5:c.-264T>A | ENSP00000406155.1:n.-264T>A | |
| NM_012179.3:c.-264T>A | NP_036311.3:n.-264T>A | |
| XM_011530106.1:c.-437T>A | XP_011528408.1:n.-437T>A | |
| XM_024452207.1:c.-454T>A | XP_024307975.1:n.-454T>A |