Linked Data
dbSNP Id:
rs777851729
ExAC:
17:61566320 A / T
gnomAD v2:
17-61566320-A-T
gnomAD v4:
17-63488959-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63488959A>T , CM000679.2:g.63488959A>T | GRCh38 |
| NC_000017.10:g.61566320A>T , CM000679.1:g.61566320A>T | GRCh37 |
| NC_000017.9:g.58920052A>T | NCBI36 |
| NG_011648.1:g.16887A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290866.10:c.2468A>T MANE Select | ENSP00000290866.4:p.Asp823Val | |
| ENST00000290863.10:c.746A>T | ENSP00000290863.6:p.Asp249Val | |
| ENST00000290866.9:c.2468A>T | ENSP00000290866.4:p.Asp823Val | |
| ENST00000413513.7:c.746A>T | ENSP00000392247.3:p.Asp249Val | |
| ENST00000428043.5:c.2468A>T | ENSP00000397593.2:p.Asp823Val | |
| ENST00000577647.2:c.746A>T | ENSP00000464149.1:p.Asp249Val | |
| ENST00000578839.5:c.*519+168A>T | ENSP00000462110.2:n.*519+168A>T | |
| ENST00000579204.1:c.727A>T | ENSP00000464629.1:n.727A>T | |
| ENST00000579314.5:c.*197A>T | ENSP00000462599.1:n.*197A>T | |
| ENST00000582005.5:c.*388A>T | ENSP00000462002.1:n.*388A>T | |
| ENST00000582761.1:c.236A>T | ENSP00000462909.1:p.Asp79Val | |
| ENST00000584865.5:n.414A>T | ||
| NM_000789.3:c.2468A>T | NP_000780.1:p.Asp823Val | |
| NM_001178057.1:c.746A>T | NP_001171528.1:p.Asp249Val | |
| NM_152830.2:c.746A>T | NP_690043.1:p.Asp249Val | |
| XM_005257110.1:c.1919A>T | XP_005257167.1:p.Asp640Val | |
| XM_006721737.2:c.806A>T | XP_006721800.2:p.Asp269Val | |
| XM_006721737.3:c.806A>T | XP_006721800.2:p.Asp269Val | |
| NM_000789.4:c.2468A>T MANE Select | NP_000780.1:p.Asp823Val | |
| NM_001178057.2:c.746A>T | NP_001171528.1:p.Asp249Val | |
| NM_152830.3:c.746A>T | NP_690043.1:p.Asp249Val | |
| NM_001382700.1:c.1901A>T | NP_001369629.1:p.Asp634Val | |
| NM_001382701.1:c.1616A>T | NP_001369630.1:p.Asp539Val | |
| NM_001382702.1:c.379+168A>T | NP_001369631.1:n.379+168A>T | |
| NR_168483.1:n.846A>T |