Linked Data
dbSNP Id:
rs2186369
gnomAD v2:
22-24170996-T-G
gnomAD v3:
22-23828809-T-G
gnomAD v4:
22-23828809-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.23828809T>G , CM000684.2:g.23828809T>G | GRCh38 |
| NC_000022.10:g.24170996T>G , CM000684.1:g.24170996T>G | GRCh37 |
| NC_000022.9:g.22500996T>G | NCBI36 |
| NG_009303.1:g.46847T>G , LRG_520:g.46847T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263121.12:c.848+3394T>G | ENSP00000263121.8:n.848+3394T>G | |
| ENST00000344921.11:c.1013+3394T>G | ENSP00000340883.6:n.1013+3394T>G | |
| ENST00000407422.8:c.959+3394T>G | ENSP00000383984.3:n.959+3394T>G | |
| ENST00000477836.2:n.2137+3394T>G | ||
| ENST00000644036.2:c.986+3394T>G MANE Select | ENSP00000494049.2:n.986+3394T>G | |
| ENST00000644462.1:c.1704+3394T>G | ENSP00000494283.1:n.1704+3394T>G | |
| ENST00000645799.1:n.2308+3394T>G | ||
| ENST00000646723.1:n.3332+3394T>G | ||
| ENST00000647057.1:c.*480+3394T>G | ENSP00000494757.1:n.*480+3394T>G | |
| ENST00000263121.11:c.986+3394T>G | ENSP00000263121.7:n.986+3394T>G | |
| ENST00000344921.10:c.1013+3394T>G | ENSP00000340883.6:n.1013+3394T>G | |
| ENST00000407082.3:c.848+3394T>G | ENSP00000385226.3:n.848+3394T>G | |
| ENST00000407422.7:c.959+3394T>G | ENSP00000383984.3:n.959+3394T>G | |
| NM_001007468.1:c.959+3394T>G | NP_001007469.1:n.959+3394T>G | |
| NM_003073.3:c.986+3394T>G , LRG_520t1:c.986+3394T>G | NP_003064.2:n.986+3394T>G | |
| XM_011530345.1:c.1040+3394T>G | XP_011528647.1:n.1040+3394T>G | |
| XM_011530346.1:c.1013+3394T>G | XP_011528648.1:n.1013+3394T>G | |
| NM_001007468.2:c.959+3394T>G | NP_001007469.1:n.959+3394T>G | |
| NM_001317946.1:c.1013+3394T>G | NP_001304875.1:n.1013+3394T>G | |
| NM_001362877.1:c.1040+3394T>G | NP_001349806.1:n.1040+3394T>G | |
| NM_003073.4:c.986+3394T>G | NP_003064.2:n.986+3394T>G | |
| NM_001007468.3:c.959+3394T>G | NP_001007469.1:n.959+3394T>G | |
| NM_001317946.2:c.1013+3394T>G | NP_001304875.1:n.1013+3394T>G | |
| NM_001362877.2:c.1040+3394T>G | NP_001349806.1:n.1040+3394T>G | |
| NM_003073.5:c.986+3394T>G MANE Select | NP_003064.2:n.986+3394T>G |