Linked Data
ClinVar Variation Id:
2904480
ClinVar RCV Id:
RCV003729318
dbSNP Id:
rs1295527965
gnomAD v2:
6-157522257-G-A
gnomAD v4:
6-157201123-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.157201123G>A , CM000668.2:g.157201123G>A | GRCh38 |
| NC_000006.11:g.157522257G>A , CM000668.1:g.157522257G>A | GRCh37 |
| NC_000006.10:g.157563949G>A | NCBI36 |
| NG_032093.1:g.428194G>A | |
| NG_032093.2:g.428194G>A | |
| NG_066624.1:g.430098G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350026.11:c.4739G>A | ENSP00000055163.8:p.Ser1580Asn | |
| ENST00000414678.8:c.4808G>A | ENSP00000412835.3:p.Ser1603Asn | |
| ENST00000637015.2:c.5027G>A | ENSP00000489729.2:p.Ser1676Asn | |
| ENST00000346085.10:c.4778G>A | ENSP00000344546.5:p.Ser1593Asn | |
| ENST00000350026.10:c.4490G>A | ENSP00000055163.7:p.Ser1497Asn | |
| ENST00000414678.7:c.3056G>A | ENSP00000412835.2:p.Ser1019Asn | |
| ENST00000635849.1:c.2219G>A | ENSP00000490948.1:p.Ser740Asn | |
| ENST00000635957.1:c.1850G>A | ENSP00000490385.1:p.Ser617Asn | |
| ENST00000636227.1:n.3361G>A | ||
| ENST00000636254.1:n.818G>A | ||
| ENST00000636930.2:c.4898G>A MANE Select | ENSP00000490491.2:p.Ser1633Asn | |
| ENST00000636940.1:n.2895G>A | ||
| ENST00000637015.1:c.2266G>A | ||
| ENST00000637568.1:c.2180G>A | ||
| ENST00000637741.1:n.1564G>A | ||
| ENST00000637810.1:c.2240G>A | ENSP00000489636.1:p.Ser747Asn | |
| ENST00000637904.1:c.2399G>A | ENSP00000490550.1:p.Ser800Asn | |
| ENST00000647938.1:c.4529G>A | ENSP00000498155.1:p.Ser1510Asn | |
| ENST00000346085.9:c.4529G>A | ENSP00000344546.4:p.Ser1510Asn | |
| ENST00000350026.9:c.4490G>A | ENSP00000055163.7:p.Ser1497Asn | |
| ENST00000414678.6:c.3056G>A | ENSP00000412835.2:p.Ser1019Asn | |
| NM_017519.2:c.4490G>A | NP_059989.2:p.Ser1497Asn | |
| NM_020732.3:c.4529G>A | NP_065783.3:p.Ser1510Asn | |
| XM_005267069.3:c.4649G>A | XP_005267126.2:p.Ser1550Asn | |
| XM_011535984.1:c.3728G>A | XP_011534286.1:p.Ser1243Asn | |
| XM_011535985.1:c.3548G>A | XP_011534287.1:p.Ser1183Asn | |
| XM_011535986.1:c.3308G>A | XP_011534288.1:p.Ser1103Asn | |
| XM_011535987.1:c.2927G>A | XP_011534289.1:p.Ser976Asn | |
| XM_011535988.1:c.1790G>A | XP_011534290.1:p.Ser597Asn | |
| NM_001346813.1:c.4649G>A | NP_001333742.1:p.Ser1550Asn | |
| NM_001363725.1:c.2399G>A | NP_001350654.1:p.Ser800Asn | |
| XM_011535984.2:c.4859G>A | XP_011534286.2:p.Ser1620Asn | |
| XM_011535988.3:c.1790G>A | XP_011534290.1:p.Ser597Asn | |
| XM_017011103.2:c.4760G>A | XP_016866592.1:p.Ser1587Asn | |
| XM_017011104.1:c.4730G>A | XP_016866593.1:p.Ser1577Asn | |
| XM_017011105.2:c.4700G>A | XP_016866594.1:p.Ser1567Asn | |
| XM_017011106.2:c.4571G>A | XP_016866595.1:p.Ser1524Asn | |
| XM_017011107.2:c.4550G>A | XP_016866596.1:p.Ser1517Asn | |
| XR_002956289.1:n.4845G>A | ||
| NM_001363725.2:c.2399G>A | NP_001350654.1:p.Ser800Asn | |
| NM_001371656.1:c.4778G>A | NP_001358585.1:p.Ser1593Asn | |
| NM_001374820.1:c.4778G>A | NP_001361749.1:p.Ser1593Asn | |
| NM_001374828.1:c.4898G>A MANE Select | NP_001361757.1:p.Ser1633Asn | |
| NM_017519.3:c.4739G>A | NP_059989.3:p.Ser1580Asn |