Linked Data
dbSNP Id:
rs763784377
ExAC:
10:89717760 A / G
gnomAD v2:
10-89717760-A-G
gnomAD v4:
10-87958003-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87958003A>G , CM000672.2:g.87958003A>G | GRCh38 |
| NC_000010.10:g.89717760A>G , CM000672.1:g.89717760A>G | GRCh37 |
| NC_000010.9:g.89707740A>G | NCBI36 |
| NG_007466.2:g.99565A>G , LRG_311:g.99565A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.785A>G | ENSP00000514759.2:p.Asn262Ser | |
| ENST00000710265.1:c.785A>G | ENSP00000518161.1:p.Asn262Ser | |
| ENST00000472832.3:c.785A>G | ENSP00000483066.2:p.Asn262Ser | |
| ENST00000688158.2:n.1520A>G | ||
| ENST00000688922.2:c.*615A>G | ENSP00000508742.2:n.*615A>G | |
| ENST00000700021.1:c.740A>G | ENSP00000514757.1:p.Asn247Ser | |
| ENST00000700022.1:c.*124A>G | ENSP00000514758.1:n.*124A>G | |
| ENST00000700023.1:n.1943A>G | ||
| ENST00000700024.1:n.2177A>G | ||
| ENST00000700025.1:n.1554A>G | ||
| ENST00000700026.1:n.422A>G | ||
| ENST00000700029.1:c.619A>G | ||
| ENST00000706954.1:c.785A>G | ENSP00000516674.1:p.Asn262Ser | |
| ENST00000706955.1:c.*820A>G | ENSP00000516675.1:n.*820A>G | |
| ENST00000686459.1:c.*371A>G | ENSP00000508909.1:n.*371A>G | |
| ENST00000688158.1:c.*896A>G | ENSP00000509254.1:n.*896A>G | |
| ENST00000688308.1:c.785A>G | ENSP00000508752.1:p.Asn262Ser | |
| ENST00000688922.1:c.706A>G | ||
| ENST00000693560.1:c.1304A>G | ENSP00000509861.1:p.Asn435Ser | |
| ENST00000371953.8:c.785A>G MANE Select | ENSP00000361021.3:p.Asn262Ser | |
| ENST00000371953.7:c.785A>G | ENSP00000361021.3:p.Asn262Ser | |
| ENST00000472832.2:c.212A>G | ENSP00000483066.1:p.Asn71Ser | |
| NM_000314.5:c.785A>G | NP_000305.3:p.Asn262Ser | |
| NM_000314.6:c.785A>G | NP_000305.3:p.Asn262Ser | |
| NM_001304717.2:c.1304A>G | NP_001291646.2:p.Asn435Ser | |
| NM_001304718.1:c.194A>G | NP_001291647.1:p.Asn65Ser | |
| XM_006717926.2:c.740A>G | XP_006717989.1:p.Asn247Ser | |
| XM_011539981.1:c.785A>G | XP_011538283.1:p.Asn262Ser | |
| XM_011539982.1:c.689A>G | XP_011538284.1:p.Asn230Ser | |
| XR_945791.1:n.1355A>G | ||
| NM_000314.7:c.785A>G | NP_000305.3:p.Asn262Ser | |
| NM_001304717.5:c.1304A>G | NP_001291646.4:p.Asn435Ser | |
| NM_001304718.2:c.194A>G | NP_001291647.1:p.Asn65Ser | |
| NM_000314.8:c.785A>G MANE Select | NP_000305.3:p.Asn262Ser |