Linked Data
dbSNP Id:
rs1290423506
gnomAD v2:
4-126239760-G-A
gnomAD v3:
4-125318605-G-A
gnomAD v4:
4-125318605-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.125318605G>A , CM000666.2:g.125318605G>A | GRCh38 |
| NC_000004.11:g.126239760G>A , CM000666.1:g.126239760G>A | GRCh37 |
| NC_000004.10:g.126459210G>A | NCBI36 |
| NG_033865.1:g.7194G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394329.9:c.2194G>A MANE Select | ENSP00000377862.4:p.Asp732Asn | |
| ENST00000674496.2:c.-55+2628G>A | ENSP00000501473.2:n.-55+2628G>A | |
| ENST00000394329.7:c.2194G>A | ENSP00000377862.3:p.Asp732Asn | |
| NM_001291285.1:c.2194G>A | NP_001278214.1:p.Asp732Asn | |
| NM_001291303.1:c.2194G>A | NP_001278232.1:p.Asp732Asn | |
| NM_024582.4:c.2194G>A | NP_078858.4:p.Asp732Asn | |
| XM_011532236.1:c.2194G>A | XP_011530538.1:p.Asp732Asn | |
| XM_011532237.1:c.-55+2628G>A | XP_011530539.1:n.-55+2628G>A | |
| XM_011532236.2:c.2194G>A | XP_011530538.1:p.Asp732Asn | |
| XM_011532237.2:c.-55+2628G>A | XP_011530539.1:n.-55+2628G>A | |
| NM_001291285.2:c.2194G>A | NP_001278214.1:p.Asp732Asn | |
| NM_001291303.3:c.2194G>A MANE Select | NP_001278232.1:p.Asp732Asn | |
| NM_024582.5:c.2194G>A | NP_078858.4:p.Asp732Asn | |
| NM_001291285.3:c.2194G>A | NP_001278214.1:p.Asp732Asn | |
| NM_024582.6:c.2194G>A | NP_078858.4:p.Asp732Asn |