Linked Data
dbSNP Id:
rs17045328
gnomAD v2:
1-207652176-A-G
gnomAD v3:
1-207478831-A-G
gnomAD v4:
1-207478831-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.207478831A>G , CM000663.2:g.207478831A>G | GRCh38 |
| NC_000001.10:g.207652176A>G , CM000663.1:g.207652176A>G | GRCh37 |
| NC_000001.9:g.205718799A>G | NCBI36 |
| NG_013006.1:g.29532A>G , LRG_348:g.29532A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000699620.1:c.2543-426A>G | ENSP00000514480.1:n.2543-426A>G | |
| ENST00000699621.1:c.2531+761A>G | ||
| ENST00000367057.8:c.3089-426A>G MANE Select | ENSP00000356024.3:n.3089-426A>G | |
| ENST00000367057.7:c.3089-426A>G | ENSP00000356024.3:n.3089-426A>G | |
| ENST00000367058.7:c.2912-426A>G | ENSP00000356025.3:n.2912-426A>G | |
| ENST00000367059.3:c.2726-426A>G | ENSP00000356026.3:n.2726-426A>G | |
| NM_001006658.2:c.3089-426A>G , LRG_348t1:c.3089-426A>G | NP_001006659.1:n.3089-426A>G | |
| NM_001877.4:c.2912-426A>G | NP_001868.2:n.2912-426A>G | |
| XM_011509206.1:c.2720-426A>G | XP_011507508.1:n.2720-426A>G | |
| XM_011509206.3:c.2720-426A>G | XP_011507508.1:n.2720-426A>G | |
| NM_001006658.3:c.3089-426A>G MANE Select | NP_001006659.1:n.3089-426A>G | |
| NM_001877.5:c.2912-426A>G | NP_001868.2:n.2912-426A>G |