Linked Data
ClinVar Variation Id:
304914
ClinVar RCV Id:
RCV000299129
dbSNP Id:
rs777159854
gnomAD v2:
11-47236632-A-G
gnomAD v3:
11-47215081-A-G
gnomAD v4:
11-47215081-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47215081A>G , CM000673.2:g.47215081A>G | GRCh38 |
| NC_000011.9:g.47236632A>G , CM000673.1:g.47236632A>G | GRCh37 |
| NC_000011.8:g.47193208A>G | NCBI36 |
| NG_009365.1:g.5140A>G , LRG_467:g.5140A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256996.9:c.-56A>G MANE Select | ENSP00000256996.4:n.-56A>G | |
| ENST00000256996.8:c.-56A>G | ENSP00000256996.3:n.-56A>G | |
| ENST00000378601.7:c.-56A>G | ENSP00000367864.3:n.-56A>G | |
| ENST00000614825.4:c.-56A>G | ENSP00000483718.1:n.-56A>G | |
| ENST00000615695.1:n.24A>G | ||
| ENST00000622090.4:c.-56A>G | ENSP00000479994.1:n.-56A>G | |
| ENST00000622878.4:c.-56A>G | ENSP00000479196.1:n.-56A>G | |
| NM_000107.2:c.-56A>G , LRG_467t1:c.-56A>G | NP_000098.1:n.-56A>G | |
| NM_001300734.1:c.-56A>G | NP_001287663.1:n.-56A>G | |
| XR_242780.3:n.113A>G | ||
| XR_242780.4:n.113A>G | ||
| NM_000107.3:c.-56A>G MANE Select | NP_000098.1:n.-56A>G | |
| NM_001300734.2:c.-56A>G | NP_001287663.1:n.-56A>G | |
| NM_001399874.1:c.-56A>G | NP_001386803.1:n.-56A>G | |
| NM_001399875.1:c.-56A>G | NP_001386804.1:n.-56A>G | |
| NM_001399876.1:c.-56A>G | NP_001386805.1:n.-56A>G | |
| NM_001399878.1:c.-56A>G | NP_001386807.1:n.-56A>G | |
| NR_174610.1:n.232A>G | ||
| NR_174611.1:n.232A>G |