Linked Data
dbSNP Id:
rs2284220
gnomAD v2:
7-30718103-G-A
gnomAD v3:
7-30678487-G-A
gnomAD v4:
7-30678487-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.30678487G>A , CM000669.2:g.30678487G>A | GRCh38 |
| NC_000007.13:g.30718103G>A , CM000669.1:g.30718103G>A | GRCh37 |
| NC_000007.12:g.30684628G>A | NCBI36 |
| NG_029169.1:g.26617C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000471646.6:c.229+3428C>T MANE Select | ENSP00000418722.1:n.229+3428C>T | |
| ENST00000341843.8:c.187+3428C>T | ENSP00000344304.4:n.187+3428C>T | |
| ENST00000348438.8:c.310+3428C>T | ENSP00000340943.4:n.310+3428C>T | |
| ENST00000452278.5:c.*342+3428C>T | ENSP00000401930.1:n.*342+3428C>T | |
| ENST00000471646.5:c.229+3428C>T | ENSP00000418722.1:n.229+3428C>T | |
| ENST00000506074.6:c.229+3428C>T | ENSP00000426498.3:n.229+3428C>T | |
| NM_001202475.1:c.310+3428C>T | NP_001189404.1:n.310+3428C>T | |
| NM_001202481.1:c.187+3428C>T | NP_001189410.1:n.187+3428C>T | |
| NM_001202482.1:c.229+3428C>T | NP_001189411.1:n.229+3428C>T | |
| NM_001202483.1:c.229+3428C>T | NP_001189412.1:n.229+3428C>T | |
| NM_001883.4:c.229+3428C>T | NP_001874.2:n.229+3428C>T | |
| XM_011515127.1:c.229+3428C>T | XP_011513429.1:n.229+3428C>T | |
| XM_011515128.1:c.229+3428C>T | XP_011513430.1:n.229+3428C>T | |
| XM_011515129.1:c.229+3428C>T | XP_011513431.1:n.229+3428C>T | |
| XM_017011752.2:c.187+3428C>T | XP_016867241.1:n.187+3428C>T | |
| XM_024446665.1:c.229+3428C>T | XP_024302433.1:n.229+3428C>T | |
| NM_001883.5:c.229+3428C>T MANE Select | NP_001874.2:n.229+3428C>T | |
| NM_001202482.2:c.229+3428C>T | NP_001189411.1:n.229+3428C>T | |
| NM_001202483.2:c.229+3428C>T | NP_001189412.1:n.229+3428C>T |