Linked Data
dbSNP Id:
rs1031815461
gnomAD v2:
2-204165045-A-G
gnomAD v3:
2-203300322-A-G
gnomAD v4:
2-203300322-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.203300322A>G , CM000664.2:g.203300322A>G | GRCh38 |
| NC_000002.11:g.204165045A>G , CM000664.1:g.204165045A>G | GRCh37 |
| NC_000002.10:g.203873290A>G | NCBI36 |
| NG_007956.1:g.66882A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356079.9:c.*3414A>G MANE Select | ENSP00000348380.4:n.*3414A>G | |
| ENST00000611416.4:c.*3414A>G | ENSP00000477866.1:n.*3414A>G | |
| ENST00000613925.4:c.*380+3034A>G | ENSP00000482757.1:n.*380+3034A>G | |
| NM_177538.2:c.*3414A>G | NP_803882.1:n.*3414A>G | |
| NM_001371695.1:c.*3414A>G | NP_001358624.1:n.*3414A>G | |
| NM_001371696.1:c.*3414A>G | NP_001358625.1:n.*3414A>G | |
| NM_001371697.1:c.*3414A>G | NP_001358626.1:n.*3414A>G | |
| NM_001371698.1:c.*3414A>G | NP_001358627.1:n.*3414A>G | |
| NM_001371699.1:c.*3414A>G | NP_001358628.1:n.*3414A>G | |
| NM_001371700.1:c.*3414A>G | NP_001358629.1:n.*3414A>G | |
| NM_001371701.1:c.*3414A>G | NP_001358630.1:n.*3414A>G | |
| NM_001371702.1:c.*3414A>G | NP_001358631.1:n.*3414A>G | |
| NM_001371703.1:c.*3414A>G | NP_001358632.1:n.*3414A>G | |
| NM_001371704.1:c.*3414A>G | NP_001358633.1:n.*3414A>G | |
| NM_001371705.1:c.*3414A>G | NP_001358634.1:n.*3414A>G | |
| NM_001371706.1:c.*3414A>G | NP_001358635.1:n.*3414A>G | |
| NM_177538.3:c.*3414A>G MANE Select | NP_803882.1:n.*3414A>G | |
| NR_163981.1:n.4727A>G | ||
| NR_163982.1:n.4648A>G | ||
| NR_163983.1:n.4431A>G | ||
| NR_163984.1:n.4490A>G | ||
| NR_163985.1:n.4736A>G |