Linked Data
dbSNP Id:
rs757657903
ExAC:
10:96796911 A / C
gnomAD v2:
10-96796911-A-C
gnomAD v3:
10-95037154-A-C
gnomAD v4:
10-95037154-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.95037154A>C , CM000672.2:g.95037154A>C | GRCh38 |
| NC_000010.10:g.96796911A>C , CM000672.1:g.96796911A>C | GRCh37 |
| NC_000010.9:g.96786901A>C | NCBI36 |
| NG_007972.1:g.37344T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371270.6:c.1447T>G MANE Select | ENSP00000360317.3:p.Tyr483Asp | |
| ENST00000371270.5:c.1447T>G | ENSP00000360317.3:p.Tyr483Asp | |
| ENST00000490994.6:c.*1233T>G | ENSP00000433314.1:n.*1233T>G | |
| ENST00000525991.5:c.*1022T>G | ENSP00000433842.1:n.*1022T>G | |
| ENST00000526814.5:n.1702T>G | ||
| ENST00000527420.5:c.*304T>G | ENSP00000433191.1:n.*304T>G | |
| ENST00000527953.5:n.1741T>G | ||
| ENST00000533320.5:n.1681T>G | ||
| ENST00000535898.5:c.1141T>G | ENSP00000445062.1:p.Tyr381Asp | |
| ENST00000539050.5:c.1237T>G | ENSP00000442343.2:p.Tyr413Asp | |
| ENST00000623108.3:c.1237T>G | ENSP00000485110.1:p.Tyr413Asp | |
| NM_000770.3:c.1447T>G MANE Select | NP_000761.3:p.Tyr483Asp | |
| NM_001198853.1:c.1237T>G | NP_001185782.1:p.Tyr413Asp | |
| NM_001198854.1:c.1141T>G | NP_001185783.1:p.Tyr381Asp | |
| NM_001198855.1:c.1237T>G | NP_001185784.1:p.Tyr413Asp |