Linked Data
ClinVar Variation Id:
415036
dbSNP Id:
rs762343857
ExAC:
10:95537151 C / T
gnomAD v2:
10-95537151-C-T
gnomAD v3:
10-93777394-C-T
gnomAD v4:
10-93777394-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.93777394C>T , CM000672.2:g.93777394C>T | GRCh38 |
| NC_000010.10:g.95537151C>T , CM000672.1:g.95537151C>T | GRCh37 |
| NC_000010.9:g.95527141C>T | NCBI36 |
| NG_011832.1:g.24586C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371418.9:c.303C>T MANE Select | ENSP00000360472.4:p.Asn101= | |
| ENST00000485458.3:n.4279C>T | ||
| ENST00000635725.1:n.89C>T | ||
| ENST00000635953.1:c.303C>T | ENSP00000490058.1:p.Asn101= | |
| ENST00000636155.1:c.303C>T | ENSP00000490355.1:p.Asn101= | |
| ENST00000636232.1:c.*89C>T | ENSP00000490325.1:n.*89C>T | |
| ENST00000636754.1:c.*93C>T | ENSP00000489781.1:n.*93C>T | |
| ENST00000636946.1:c.*472C>T | ENSP00000490654.1:n.*472C>T | |
| ENST00000637037.1:c.303C>T | ENSP00000490860.1:p.Asn101= | |
| ENST00000637347.1:n.164C>T | ||
| ENST00000637611.1:c.303C>T | ENSP00000489682.1:p.Asn101= | |
| ENST00000637689.1:c.-1069C>T | ENSP00000490496.1:n.-1069C>T | |
| ENST00000637925.1:c.303C>T | ENSP00000489763.1:p.Asn101= | |
| ENST00000638049.1:c.*61C>T | ENSP00000490597.1:n.*61C>T | |
| ENST00000371413.4:c.303C>T | ENSP00000360467.3:p.Asn101= | |
| ENST00000371418.8:c.303C>T | ENSP00000360472.4:p.Asn101= | |
| ENST00000485458.2:n.218C>T | ||
| ENST00000627420.2:c.*78-12705C>T | ENSP00000487116.1:n.*78-12705C>T | |
| ENST00000629035.2:c.231C>T | ENSP00000486908.1:p.Asn77= | |
| ENST00000630047.2:c.288-12705C>T | ENSP00000485917.1:n.288-12705C>T | |
| ENST00000630184.2:c.303C>T | ENSP00000486607.1:p.Asn101= | |
| ENST00000630487.2:c.*93C>T | ENSP00000486859.1:n.*93C>T | |
| NM_001308275.1:c.303C>T | NP_001295204.1:p.Asn101= | |
| NM_001308276.1:c.288-12705C>T | NP_001295205.1:n.288-12705C>T | |
| NM_005097.2:c.303C>T | NP_005088.1:p.Asn101= | |
| NM_005097.3:c.303C>T | NP_005088.1:p.Asn101= | |
| NR_131777.1:n.633-12705C>T | ||
| XR_946213.1:n.381-369G>A | ||
| XR_946214.1:n.381-369G>A | ||
| XM_017016911.2:c.303C>T | XP_016872400.1:p.Asn101= | |
| XM_017016912.2:c.288-12705C>T | XP_016872401.1:n.288-12705C>T | |
| XR_002957096.1:n.1558-369G>A | ||
| NM_005097.4:c.303C>T MANE Select | NP_005088.1:p.Asn101= | |
| NM_001308275.2:c.303C>T | NP_001295204.1:p.Asn101= | |
| NM_001308276.2:c.288-12705C>T | NP_001295205.1:n.288-12705C>T | |
| NR_131777.2:n.506-12705C>T |