Linked Data
dbSNP Id:
rs11801299
gnomAD v2:
1-204529084-G-A
gnomAD v3:
1-204559956-G-A
gnomAD v4:
1-204559956-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.204559956G>A , CM000663.2:g.204559956G>A | GRCh38 |
| NC_000001.10:g.204529084G>A , CM000663.1:g.204529084G>A | GRCh37 |
| NC_000001.9:g.202795707G>A | NCBI36 |
| NG_029367.1:g.48578G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XM_011509565.1:c.*10+1227G>A | XP_011507867.1:n.*10+1227G>A | |
| XR_001738394.2:n.371G>A |