Linked Data
dbSNP Id:
rs9824246
gnomAD v2:
3-73102725-A-G
gnomAD v3:
3-73053574-A-G
gnomAD v4:
3-73053574-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.73053574A>G , CM000665.2:g.73053574A>G | GRCh38 |
| NC_000003.11:g.73102725A>G , CM000665.1:g.73102725A>G | GRCh37 |
| NC_000003.10:g.73185415A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000710398.1:c.393-5463A>G | ENSP00000518252.1:n.393-5463A>G | |
| ENST00000356692.10:c.288-5463A>G MANE Select | ENSP00000349124.5:n.288-5463A>G | |
| ENST00000356692.9:c.288-5463A>G | ENSP00000349124.5:n.288-5463A>G | |
| ENST00000470976.1:n.508-5463A>G | ||
| ENST00000476505.2:c.174-5463A>G | ENSP00000420098.2:n.174-5463A>G | |
| ENST00000482242.5:c.117-5463A>G | ENSP00000418568.1:n.117-5463A>G | |
| ENST00000488810.5:c.288-5463A>G | ENSP00000418750.1:n.288-5463A>G | |
| NM_174907.2:c.288-5463A>G | NP_777567.1:n.288-5463A>G | |
| NM_001318025.1:c.117-5463A>G | NP_001304954.1:n.117-5463A>G | |
| NM_001318026.1:c.174-5463A>G | NP_001304955.1:n.174-5463A>G | |
| NM_001318027.1:c.-164-5463A>G | NP_001304956.1:n.-164-5463A>G | |
| NM_174907.3:c.288-5463A>G | NP_777567.1:n.288-5463A>G | |
| NM_001318025.2:c.117-5463A>G | NP_001304954.1:n.117-5463A>G | |
| NM_001318027.2:c.-164-5463A>G | NP_001304956.1:n.-164-5463A>G | |
| NM_174907.4:c.288-5463A>G MANE Select | NP_777567.1:n.288-5463A>G | |
| NM_001318026.2:c.174-5463A>G | NP_001304955.1:n.174-5463A>G |