Linked Data
dbSNP Id:
rs1130409
ExAC:
14:20925154 T / A
gnomAD v2:
14-20925154-T-A
gnomAD v4:
14-20456995-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.20456995T>A , CM000676.2:g.20456995T>A | GRCh38 |
| NC_000014.8:g.20925154T>A , CM000676.1:g.20925154T>A | GRCh37 |
| NC_000014.7:g.19994994T>A | NCBI36 |
| NG_008718.1:g.6865T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000216714.8:c.444T>A MANE Select | ENSP00000216714.3:p.Asp148Glu | |
| ENST00000216714.7:c.444T>A | ENSP00000216714.3:p.Asp148Glu | |
| ENST00000398030.8:c.444T>A | ENSP00000381111.4:p.Asp148Glu | |
| ENST00000438886.1:c.289-65T>A | ||
| ENST00000553555.5:n.864T>A | ||
| ENST00000553681.5:c.444T>A | ENSP00000451327.1:p.Asp148Glu | |
| ENST00000554813.5:n.510T>A | ||
| ENST00000555306.5:n.891T>A | ||
| ENST00000555414.5:c.444T>A | ENSP00000451979.1:p.Asp148Glu | |
| ENST00000555839.5:c.440-83T>A | ENSP00000452460.1:n.440-83T>A | |
| ENST00000556054.5:c.444T>A | ENSP00000451170.1:p.Asp148Glu | |
| ENST00000557054.1:c.28-128T>A | ENSP00000452212.2:n.28-128T>A | |
| ENST00000557150.5:c.393T>A | ENSP00000452418.1:p.Asp131Glu | |
| ENST00000557159.5:n.1060T>A | ||
| ENST00000557365.1:n.524T>A | ||
| ENST00000557592.5:c.393T>A | ENSP00000451060.1:p.Asp131Glu | |
| NM_001244249.1:c.444T>A | NP_001231178.1:p.Asp148Glu | |
| NM_001641.3:c.444T>A | NP_001632.2:p.Asp148Glu | |
| NM_080648.2:c.444T>A | NP_542379.1:p.Asp148Glu | |
| NM_080649.2:c.444T>A | NP_542380.1:p.Asp148Glu | |
| XM_005267581.3:c.444T>A | XP_005267638.1:p.Asp148Glu | |
| XM_005267582.3:c.393T>A | XP_005267639.1:p.Asp131Glu | |
| NM_001641.4:c.444T>A MANE Select | NP_001632.2:p.Asp148Glu | |
| NM_001244249.2:c.444T>A | NP_001231178.1:p.Asp148Glu | |
| NM_080648.3:c.444T>A | NP_542379.1:p.Asp148Glu | |
| NM_080649.3:c.444T>A | NP_542380.1:p.Asp148Glu |