Linked Data
dbSNP Id:
rs765677739
gnomAD v2:
15-48713956-T-A
gnomAD v3:
15-48421759-T-A
gnomAD v4:
15-48421759-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48421759T>A , CM000677.2:g.48421759T>A | GRCh38 |
| NC_000015.9:g.48713956T>A , CM000677.1:g.48713956T>A | GRCh37 |
| NC_000015.8:g.46501248T>A | NCBI36 |
| NG_008805.2:g.229030A>T , LRG_778:g.229030A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*379-73A>T | ENSP00000453958.2:n.*379-73A>T | |
| ENST00000674301.2:c.*1084-73A>T | ENSP00000501333.2:n.*1084-73A>T | |
| ENST00000682170.1:n.1752-73A>T | ||
| ENST00000682767.1:n.868-73A>T | ||
| ENST00000316623.10:c.7571-73A>T MANE Select | ENSP00000325527.5:n.7571-73A>T | |
| ENST00000674301.1:c.2737-73A>T | ENSP00000501333.1:n.2737-73A>T | |
| ENST00000316623.9:c.7571-73A>T | ENSP00000325527.5:n.7571-73A>T | |
| ENST00000559133.5:c.2940-73A>T | ||
| NM_000138.4:c.7571-73A>T , LRG_778t1:c.7571-73A>T | NP_000129.3:n.7571-73A>T | |
| NM_000138.5:c.7571-73A>T MANE Select | NP_000129.3:n.7571-73A>T |