Linked Data
ClinVar Variation Id:
1495955
dbSNP Id:
rs1354621995
gnomAD v3:
14-65076554-A-T
gnomAD v4:
14-65076554-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.65076554A>T , CM000676.2:g.65076554A>T | GRCh38 |
| NC_000014.8:g.65543272A>T , CM000676.1:g.65543272A>T | GRCh37 |
| NC_000014.7:g.64613025A>T | NCBI36 |
| NG_029830.1:g.30956T>A , LRG_530:g.30956T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000556892.6:c.186T>A | ENSP00000452206.2:p.Asp62Glu | |
| ENST00000556979.6:c.*858T>A | ENSP00000452378.1:n.*858T>A | |
| ENST00000358664.9:c.405T>A MANE Select | ENSP00000351490.4:p.Asp135Glu | |
| ENST00000651648.1:c.145-6185T>A | ENSP00000498863.1:n.145-6185T>A | |
| ENST00000284165.10:c.*1249T>A | ENSP00000284165.6:n.*1249T>A | |
| ENST00000341653.6:c.171+17154T>A | ENSP00000342482.2:n.171+17154T>A | |
| ENST00000358402.8:c.378T>A | ENSP00000351175.4:p.Asp126Glu | |
| ENST00000358664.8:c.405T>A | ENSP00000351490.4:p.Asp135Glu | |
| ENST00000394606.6:c.*178T>A | ENSP00000378104.2:n.*178T>A | |
| ENST00000553928.5:c.*194T>A | ENSP00000451907.1:n.*194T>A | |
| ENST00000555419.5:c.297T>A | ENSP00000452405.1:p.Asp99Glu | |
| ENST00000555932.5:c.146T>A | ENSP00000450763.1:p.Met49Lys | |
| ENST00000557277.5:c.216T>A | ENSP00000450955.1:p.Asp72Glu | |
| ENST00000618858.4:c.*194T>A | ENSP00000480127.1:n.*194T>A | |
| NM_001271069.1:c.144+17154T>A | NP_001257998.1:n.144+17154T>A | |
| NM_002382.4:c.405T>A | NP_002373.3:p.Asp135Glu | |
| NM_145112.2:c.378T>A | NP_660087.1:p.Asp126Glu | |
| NM_145113.2:c.*194T>A | NP_660088.1:n.*194T>A | |
| NM_197957.3:c.171+17154T>A | NP_932061.1:n.171+17154T>A | |
| NR_073137.1:n.529T>A | ||
| XR_429315.2:n.692T>A | ||
| NM_001320415.1:c.216T>A | NP_001307344.1:p.Asp72Glu | |
| XM_017021312.2:c.216T>A | XP_016876801.1:p.Asp72Glu | |
| XM_017021313.1:c.216T>A | XP_016876802.1:p.Asp72Glu | |
| XR_001750326.2:n.750T>A | ||
| XR_001750327.2:n.669T>A | ||
| XR_002957553.1:n.1183T>A | ||
| XR_943450.3:n.773T>A | ||
| XR_943451.3:n.789T>A | ||
| XR_943452.3:n.734T>A | ||
| NM_001320415.2:c.216T>A | NP_001307344.1:p.Asp72Glu | |
| NM_002382.5:c.405T>A MANE Select | NP_002373.3:p.Asp135Glu | |
| NM_145112.3:c.378T>A | NP_660087.1:p.Asp126Glu | |
| NM_145113.3:c.*194T>A | NP_660088.1:n.*194T>A | |
| NM_001271069.2:c.144+17154T>A | NP_001257998.1:n.144+17154T>A | |
| NM_197957.4:c.171+17154T>A | NP_932061.1:n.171+17154T>A |