Linked Data
dbSNP Id:
rs1106634
gnomAD v2:
8-20066049-G-A
gnomAD v3:
8-20208538-G-A
gnomAD v4:
8-20208538-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.20208538G>A , CM000670.2:g.20208538G>A | GRCh38 |
| NC_000008.10:g.20066049G>A , CM000670.1:g.20066049G>A | GRCh37 |
| NC_000008.9:g.20110329G>A | NCBI36 |
| NG_047013.1:g.16346G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000276390.7:c.193-895G>A MANE Select | ENSP00000276390.2:n.193-895G>A | |
| ENST00000276390.6:c.193-895G>A | ENSP00000276390.2:n.193-895G>A | |
| ENST00000519667.1:c.161-895G>A | ||
| ENST00000520830.1:c.301-895G>A | ||
| ENST00000523478.5:c.193-903G>A | ENSP00000430154.1:n.193-903G>A | |
| ENST00000523482.5:n.197-895G>A | ||
| NM_001693.3:c.193-895G>A | NP_001684.2:n.193-895G>A | |
| XR_002956632.1:n.225-895G>A | ||
| XR_002956633.1:n.225-895G>A | ||
| NM_001693.4:c.193-895G>A MANE Select | NP_001684.2:n.193-895G>A |