Linked Data
dbSNP Id:
rs6561030
gnomAD v2:
13-42631719-C-A
gnomAD v3:
13-42057583-C-A
gnomAD v4:
13-42057583-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.42057583C>A , CM000675.2:g.42057583C>A | GRCh38 |
| NC_000013.10:g.42631719C>A , CM000675.1:g.42631719C>A | GRCh37 |
| NC_000013.9:g.41529719C>A | NCBI36 |
| NG_029191.2:g.22548C>A | |
| NG_029191.3:g.22548C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000337343.9:c.192+8618C>A MANE Select | ENSP00000337572.4:n.192+8618C>A | |
| ENST00000261491.9:c.192+8618C>A | ENSP00000261491.4:n.192+8618C>A | |
| ENST00000337343.8:c.192+8618C>A | ENSP00000337572.4:n.192+8618C>A | |
| ENST00000379274.6:c.192+8618C>A | ENSP00000368576.3:n.192+8618C>A | |
| ENST00000611224.1:c.145-8508C>A | ENSP00000482250.1:n.145-8508C>A | |
| NM_001204504.2:c.192+8618C>A | NP_001191433.1:n.192+8618C>A | |
| NM_152910.5:c.192+8618C>A | NP_690874.2:n.192+8618C>A | |
| NM_178009.4:c.192+8618C>A | NP_821077.1:n.192+8618C>A | |
| NM_152910.6:c.192+8618C>A | NP_690874.2:n.192+8618C>A | |
| NM_178009.5:c.192+8618C>A MANE Select | NP_821077.1:n.192+8618C>A | |
| NM_001204504.3:c.192+8618C>A | NP_001191433.1:n.192+8618C>A |