Linked Data
dbSNP Id:
rs1284449792
gnomAD v2:
14-21878223-T-A
gnomAD v3:
14-21410064-T-A
gnomAD v4:
14-21410064-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21410064T>A , CM000676.2:g.21410064T>A | GRCh38 |
| NC_000014.8:g.21878223T>A , CM000676.1:g.21878223T>A | GRCh37 |
| NC_000014.7:g.20948063T>A | NCBI36 |
| NG_021249.1:g.32235A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000430710.8:c.1390-76A>T | ENSP00000406288.3:n.1390-76A>T | |
| ENST00000555962.6:c.-110-7022A>T | ENSP00000495174.1:n.-110-7022A>T | |
| ENST00000557364.6:c.2227-76A>T | ENSP00000451601.1:n.2227-76A>T | |
| ENST00000643469.1:c.2227-76A>T | ENSP00000495070.1:n.2227-76A>T | |
| ENST00000645140.1:c.2139-76A>T | ||
| ENST00000645206.1:n.741-76A>T | ||
| ENST00000645929.1:c.1390-76A>T | ENSP00000494402.1:n.1390-76A>T | |
| ENST00000646340.1:c.2233-76A>T | ENSP00000496730.1:n.2233-76A>T | |
| ENST00000646647.2:c.2227-76A>T MANE Select | ENSP00000495240.1:n.2227-76A>T | |
| ENST00000399982.6:c.2227-76A>T | ENSP00000382863.2:n.2227-76A>T | |
| ENST00000430710.7:c.1390-76A>T | ENSP00000406288.3:n.1390-76A>T | |
| ENST00000554384.1:n.95-76A>T | ||
| ENST00000555962.5:n.151-7022A>T | ||
| ENST00000557364.5:c.2227-76A>T | ENSP00000451601.1:n.2227-76A>T | |
| NM_001170629.1:c.2227-76A>T | NP_001164100.1:n.2227-76A>T | |
| NM_020920.3:c.1390-76A>T | NP_065971.2:n.1390-76A>T | |
| NM_001170629.2:c.2227-76A>T MANE Select | NP_001164100.1:n.2227-76A>T | |
| NM_020920.4:c.1390-76A>T | NP_065971.2:n.1390-76A>T |