Linked Data
dbSNP Id:
rs1336677544
gnomAD v2:
22-36661153-A-G
gnomAD v3:
22-36265107-A-G
gnomAD v4:
22-36265107-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36265107A>G , CM000684.2:g.36265107A>G | GRCh38 |
| NC_000022.10:g.36661153A>G , CM000684.1:g.36661153A>G | GRCh37 |
| NC_000022.9:g.34991099A>G | NCBI36 |
| NG_023228.1:g.17037A>G , LRG_169:g.17037A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000427990.6:c.315-44A>G | ENSP00000391302.2:n.315-44A>G | |
| ENST00000433768.6:c.*77-44A>G | ENSP00000392514.1:n.*77-44A>G | |
| ENST00000438034.6:c.402-44A>G | ENSP00000404525.2:n.402-44A>G | |
| ENST00000397278.8:c.315-44A>G MANE Select | ENSP00000380448.4:n.315-44A>G | |
| ENST00000319136.8:c.363-44A>G | ENSP00000317674.4:n.363-44A>G | |
| ENST00000397278.7:c.315-44A>G | ENSP00000380448.3:n.315-44A>G | |
| ENST00000397279.8:c.315-44A>G | ENSP00000380449.4:n.315-44A>G | |
| ENST00000422706.5:c.315-44A>G | ENSP00000411507.1:n.315-44A>G | |
| ENST00000426053.5:c.261-44A>G | ENSP00000388477.1:n.261-44A>G | |
| ENST00000427990.5:c.315-44A>G | ENSP00000391302.1:n.315-44A>G | |
| NM_001136540.1:c.315-44A>G | NP_001130012.1:n.315-44A>G | |
| NM_001136541.1:c.261-44A>G | NP_001130013.1:n.261-44A>G | |
| NM_003661.3:c.315-44A>G | NP_003652.2:n.315-44A>G | |
| NM_145343.2:c.363-44A>G , LRG_169t1:c.363-44A>G | NP_663318.1:n.363-44A>G | |
| XM_005261796.2:c.261-44A>G | XP_005261853.1:n.261-44A>G | |
| XM_011530478.1:c.-49-44A>G | XP_011528780.1:n.-49-44A>G | |
| NM_001362927.1:c.261-44A>G | NP_001349856.1:n.261-44A>G | |
| XM_011530478.2:c.-49-44A>G | XP_011528780.1:n.-49-44A>G | |
| NM_001362927.2:c.261-44A>G | NP_001349856.1:n.261-44A>G | |
| NM_003661.4:c.315-44A>G MANE Select | NP_003652.2:n.315-44A>G | |
| NM_001136540.2:c.315-44A>G | NP_001130012.1:n.315-44A>G | |
| NM_001136541.2:c.261-44A>G | NP_001130013.1:n.261-44A>G | |
| NM_145343.3:c.363-44A>G | NP_663318.1:n.363-44A>G |