Linked Data
dbSNP Id:
rs41282492
ExAC:
1:111854889 A / G
gnomAD v2:
1-111854889-A-G
gnomAD v3:
1-111312267-A-G
gnomAD v4:
1-111312267-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.111312267A>G , CM000663.2:g.111312267A>G | GRCh38 |
| NC_000001.10:g.111854889A>G , CM000663.1:g.111854889A>G | GRCh37 |
| NC_000001.9:g.111656412A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369740.6:c.133A>G MANE Select | ENSP00000358755.1:p.Asn45Asp | |
| ENST00000343320.10:c.133A>G | ENSP00000341828.6:p.Asn45Asp | |
| ENST00000352594.10:c.-68+549A>G | ENSP00000271312.8:n.-68+549A>G | |
| ENST00000353665.10:c.-200+549A>G | ENSP00000338970.7:n.-200+549A>G | |
| ENST00000369740.5:c.133A>G | ENSP00000358755.1:p.Asn45Asp | |
| ENST00000422815.5:c.90-2273A>G | ENSP00000387671.1:n.90-2273A>G | |
| ENST00000430615.1:c.-68+549A>G | ENSP00000391132.1:n.-68+549A>G | |
| ENST00000451398.6:c.-61+549A>G | ENSP00000390476.2:n.-61+549A>G | |
| ENST00000477918.6:n.62+549A>G | ||
| ENST00000483391.5:c.-60-2273A>G | ENSP00000436946.1:n.-60-2273A>G | |
| ENST00000489524.5:c.-61+549A>G | ENSP00000433309.1:n.-61+549A>G | |
| NM_001040623.2:c.-61+549A>G | NP_001035713.1:n.-61+549A>G | |
| NM_001258001.1:c.-68+549A>G | NP_001244930.1:n.-68+549A>G | |
| NM_001258002.1:c.-60-2273A>G | NP_001244931.1:n.-60-2273A>G | |
| NM_001258003.1:c.-68+549A>G | NP_001244932.1:n.-68+549A>G | |
| NM_001258004.1:c.-366+549A>G | NP_001244933.1:n.-366+549A>G | |
| NM_001258005.1:c.-200+549A>G | NP_001244934.1:n.-200+549A>G | |
| NM_021797.3:c.-67-2273A>G | NP_068569.2:n.-67-2273A>G | |
| NM_201653.3:c.133A>G | NP_970615.2:p.Asn45Asp | |
| XM_006710577.2:c.-61+549A>G | XP_006710640.1:n.-61+549A>G | |
| XM_006710577.3:c.-61+549A>G | XP_006710640.1:n.-61+549A>G | |
| XM_017001048.1:c.-68+549A>G | XP_016856537.1:n.-68+549A>G | |
| NM_201653.4:c.133A>G MANE Select | NP_970615.2:p.Asn45Asp | |
| NM_001040623.3:c.-61+549A>G | NP_001035713.1:n.-61+549A>G | |
| NM_001258001.2:c.-68+549A>G | NP_001244930.1:n.-68+549A>G | |
| NM_001258002.2:c.-60-2273A>G | NP_001244931.1:n.-60-2273A>G | |
| NM_001258003.2:c.-68+549A>G | NP_001244932.1:n.-68+549A>G | |
| NM_001258004.2:c.-366+549A>G | NP_001244933.1:n.-366+549A>G | |
| NM_001258005.2:c.-200+549A>G | NP_001244934.1:n.-200+549A>G | |
| NM_021797.4:c.-67-2273A>G | NP_068569.2:n.-67-2273A>G |