Linked Data
dbSNP Id:
rs754980689
ExAC:
10:95552991 C / A
gnomAD v2:
10-95552991-C-A
gnomAD v4:
10-93793234-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.93793234C>A , CM000672.2:g.93793234C>A | GRCh38 |
| NC_000010.10:g.95552991C>A , CM000672.1:g.95552991C>A | GRCh37 |
| NC_000010.9:g.95542981C>A | NCBI36 |
| NG_011832.1:g.40426C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371418.9:c.722C>A MANE Select | ENSP00000360472.4:p.Thr241Asn | |
| ENST00000485458.3:n.4698C>A | ||
| ENST00000635953.1:c.722C>A | ENSP00000490058.1:p.Thr241Asn | |
| ENST00000636155.1:c.722C>A | ENSP00000490355.1:p.Thr241Asn | |
| ENST00000636232.1:c.*508C>A | ENSP00000490325.1:n.*508C>A | |
| ENST00000636754.1:c.*564C>A | ENSP00000489781.1:n.*564C>A | |
| ENST00000636946.1:c.*891C>A | ENSP00000490654.1:n.*891C>A | |
| ENST00000637037.1:c.*312C>A | ENSP00000490860.1:n.*312C>A | |
| ENST00000637347.1:n.583C>A | ||
| ENST00000637611.1:c.*278C>A | ENSP00000489682.1:n.*278C>A | |
| ENST00000637689.1:c.-650C>A | ENSP00000490496.1:n.-650C>A | |
| ENST00000637925.1:c.*317C>A | ENSP00000489763.1:n.*317C>A | |
| ENST00000638049.1:c.*480C>A | ENSP00000490597.1:n.*480C>A | |
| ENST00000676175.1:n.2461C>A | ||
| ENST00000371413.4:c.722C>A | ENSP00000360467.3:p.Thr241Asn | |
| ENST00000371418.8:c.722C>A | ENSP00000360472.4:p.Thr241Asn | |
| ENST00000626307.1:n.4637C>A | ||
| ENST00000626946.1:n.392C>A | ||
| ENST00000627420.2:c.*431C>A | ENSP00000487116.1:n.*431C>A | |
| ENST00000629035.2:c.650C>A | ENSP00000486908.1:p.Thr217Asn | |
| ENST00000630047.2:c.578C>A | ENSP00000485917.1:p.Thr193Asn | |
| ENST00000630412.1:n.510C>A | ||
| ENST00000630487.2:c.*512C>A | ENSP00000486859.1:n.*512C>A | |
| NM_001308275.1:c.722C>A | NP_001295204.1:p.Thr241Asn | |
| NM_001308276.1:c.578C>A | NP_001295205.1:p.Thr193Asn | |
| NM_005097.2:c.722C>A | NP_005088.1:p.Thr241Asn | |
| NM_005097.3:c.722C>A | NP_005088.1:p.Thr241Asn | |
| NR_131777.1:n.986C>A | ||
| XM_017016911.2:c.722C>A | XP_016872400.1:p.Thr241Asn | |
| XM_017016912.2:c.578C>A | XP_016872401.1:p.Thr193Asn | |
| NM_005097.4:c.722C>A MANE Select | NP_005088.1:p.Thr241Asn | |
| NM_001308275.2:c.722C>A | NP_001295204.1:p.Thr241Asn | |
| NM_001308276.2:c.578C>A | NP_001295205.1:p.Thr193Asn | |
| NR_131777.2:n.859C>A |