Linked Data
dbSNP Id:
rs746248680
ExAC:
4:126240091 A / G
gnomAD v2:
4-126240091-A-G
gnomAD v4:
4-125318936-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.125318936A>G , CM000666.2:g.125318936A>G | GRCh38 |
| NC_000004.11:g.126240091A>G , CM000666.1:g.126240091A>G | GRCh37 |
| NC_000004.10:g.126459541A>G | NCBI36 |
| NG_033865.1:g.7525A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394329.9:c.2525A>G MANE Select | ENSP00000377862.4:p.Asn842Ser | |
| ENST00000674496.2:c.-55+2959A>G | ENSP00000501473.2:n.-55+2959A>G | |
| ENST00000678072.1:n.131A>G | ||
| ENST00000394329.7:c.2525A>G | ENSP00000377862.3:p.Asn842Ser | |
| NM_001291285.1:c.2525A>G | NP_001278214.1:p.Asn842Ser | |
| NM_001291303.1:c.2525A>G | NP_001278232.1:p.Asn842Ser | |
| NM_024582.4:c.2525A>G | NP_078858.4:p.Asn842Ser | |
| XM_011532236.1:c.2525A>G | XP_011530538.1:p.Asn842Ser | |
| XM_011532237.1:c.-55+2959A>G | XP_011530539.1:n.-55+2959A>G | |
| XM_011532236.2:c.2525A>G | XP_011530538.1:p.Asn842Ser | |
| XM_011532237.2:c.-55+2959A>G | XP_011530539.1:n.-55+2959A>G | |
| NM_001291285.2:c.2525A>G | NP_001278214.1:p.Asn842Ser | |
| NM_001291303.3:c.2525A>G MANE Select | NP_001278232.1:p.Asn842Ser | |
| NM_024582.5:c.2525A>G | NP_078858.4:p.Asn842Ser | |
| NM_001291285.3:c.2525A>G | NP_001278214.1:p.Asn842Ser | |
| NM_024582.6:c.2525A>G | NP_078858.4:p.Asn842Ser |