Linked Data
ClinVar Variation Id:
1676407
dbSNP Id:
rs1346882502
gnomAD v2:
6-157522235-G-A
gnomAD v3:
6-157201101-G-A
gnomAD v4:
6-157201101-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.157201101G>A , CM000668.2:g.157201101G>A | GRCh38 |
| NC_000006.11:g.157522235G>A , CM000668.1:g.157522235G>A | GRCh37 |
| NC_000006.10:g.157563927G>A | NCBI36 |
| NG_032093.1:g.428172G>A | |
| NG_032093.2:g.428172G>A | |
| NG_066624.1:g.430076G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350026.11:c.4717G>A | ENSP00000055163.8:p.Asp1573Asn | |
| ENST00000414678.8:c.4786G>A | ENSP00000412835.3:p.Asp1596Asn | |
| ENST00000637015.2:c.5005G>A | ENSP00000489729.2:p.Asp1669Asn | |
| ENST00000346085.10:c.4756G>A | ENSP00000344546.5:p.Asp1586Asn | |
| ENST00000350026.10:c.4468G>A | ENSP00000055163.7:p.Asp1490Asn | |
| ENST00000414678.7:c.3034G>A | ENSP00000412835.2:p.Asp1012Asn | |
| ENST00000635849.1:c.2197G>A | ENSP00000490948.1:p.Asp733Asn | |
| ENST00000635957.1:c.1828G>A | ENSP00000490385.1:p.Asp610Asn | |
| ENST00000636227.1:n.3339G>A | ||
| ENST00000636254.1:n.796G>A | ||
| ENST00000636930.2:c.4876G>A MANE Select | ENSP00000490491.2:p.Asp1626Asn | |
| ENST00000636940.1:n.2873G>A | ||
| ENST00000637015.1:c.2244G>A | ||
| ENST00000637568.1:c.2158G>A | ||
| ENST00000637741.1:n.1542G>A | ||
| ENST00000637810.1:c.2218G>A | ENSP00000489636.1:p.Asp740Asn | |
| ENST00000637904.1:c.2377G>A | ENSP00000490550.1:p.Asp793Asn | |
| ENST00000647938.1:c.4507G>A | ENSP00000498155.1:p.Asp1503Asn | |
| ENST00000346085.9:c.4507G>A | ENSP00000344546.4:p.Asp1503Asn | |
| ENST00000350026.9:c.4468G>A | ENSP00000055163.7:p.Asp1490Asn | |
| ENST00000414678.6:c.3034G>A | ENSP00000412835.2:p.Asp1012Asn | |
| NM_017519.2:c.4468G>A | NP_059989.2:p.Asp1490Asn | |
| NM_020732.3:c.4507G>A | NP_065783.3:p.Asp1503Asn | |
| XM_005267069.3:c.4627G>A | XP_005267126.2:p.Asp1543Asn | |
| XM_011535984.1:c.3706G>A | XP_011534286.1:p.Asp1236Asn | |
| XM_011535985.1:c.3526G>A | XP_011534287.1:p.Asp1176Asn | |
| XM_011535986.1:c.3286G>A | XP_011534288.1:p.Asp1096Asn | |
| XM_011535987.1:c.2905G>A | XP_011534289.1:p.Asp969Asn | |
| XM_011535988.1:c.1768G>A | XP_011534290.1:p.Asp590Asn | |
| NM_001346813.1:c.4627G>A | NP_001333742.1:p.Asp1543Asn | |
| NM_001363725.1:c.2377G>A | NP_001350654.1:p.Asp793Asn | |
| XM_011535984.2:c.4837G>A | XP_011534286.2:p.Asp1613Asn | |
| XM_011535988.3:c.1768G>A | XP_011534290.1:p.Asp590Asn | |
| XM_017011103.2:c.4738G>A | XP_016866592.1:p.Asp1580Asn | |
| XM_017011104.1:c.4708G>A | XP_016866593.1:p.Asp1570Asn | |
| XM_017011105.2:c.4678G>A | XP_016866594.1:p.Asp1560Asn | |
| XM_017011106.2:c.4549G>A | XP_016866595.1:p.Asp1517Asn | |
| XM_017011107.2:c.4528G>A | XP_016866596.1:p.Asp1510Asn | |
| XR_002956289.1:n.4823G>A | ||
| NM_001363725.2:c.2377G>A | NP_001350654.1:p.Asp793Asn | |
| NM_001371656.1:c.4756G>A | NP_001358585.1:p.Asp1586Asn | |
| NM_001374820.1:c.4756G>A | NP_001361749.1:p.Asp1586Asn | |
| NM_001374828.1:c.4876G>A MANE Select | NP_001361757.1:p.Asp1626Asn | |
| NM_017519.3:c.4717G>A | NP_059989.3:p.Asp1573Asn |