Linked Data
dbSNP Id:
rs759771367
gnomAD v2:
16-1412287-G-T
gnomAD v3:
16-1362286-G-T
gnomAD v4:
16-1362286-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1362286G>T , CM000678.2:g.1362286G>T | GRCh38 |
| NC_000016.9:g.1412287G>T , CM000678.1:g.1412287G>T | GRCh37 |
| NC_000016.8:g.1352288G>T | NCBI36 |
| NG_016985.1:g.15388G>T | |
| NG_033129.1:g.57419C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527168.6:n.591G>T | ||
| ENST00000529110.2:c.576G>T | ENSP00000435349.2:p.Glu192Asp | |
| ENST00000529957.6:n.550G>T | ||
| ENST00000683366.1:c.*224G>T | ENSP00000507283.1:n.*224G>T | |
| ENST00000683887.1:c.540G>T | ENSP00000506886.1:p.Glu180Asp | |
| ENST00000684100.1:n.486G>T | ||
| ENST00000684126.1:n.550G>T | ||
| ENST00000684688.1:n.1117G>T | ||
| ENST00000204679.9:c.492G>T MANE Select | ENSP00000204679.4:p.Glu164Asp | |
| ENST00000204679.8:c.492G>T | ENSP00000204679.4:p.Glu164Asp | |
| ENST00000527076.1:n.1508G>T | ||
| ENST00000527168.5:n.528G>T | ||
| ENST00000529957.5:n.591G>T | ||
| NM_032520.4:c.492G>T | NP_115909.1:p.Glu164Asp | |
| XM_017023782.1:c.540G>T | XP_016879271.1:p.Glu180Asp | |
| XM_017023783.1:c.132G>T | XP_016879272.1:p.Glu44Asp | |
| NM_032520.5:c.492G>T MANE Select | NP_115909.1:p.Glu164Asp |