Linked Data
dbSNP Id:
rs146786837
gnomAD v2:
17-7521896-A-T
gnomAD v3:
17-7618578-A-T
gnomAD v4:
17-7618578-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7618578A>T , CM000679.2:g.7618578A>T | GRCh38 |
| NC_000017.10:g.7521896A>T , CM000679.1:g.7521896A>T | GRCh37 |
| NC_000017.9:g.7462621A>T | NCBI36 |
| NG_011981.2:g.9515A>T | |
| NG_028105.1:g.1320T>A , LRG_285:g.1320T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570547.5:c.-62+4467A>T | ENSP00000458875.1:n.-62+4467A>T | |
| ENST00000572182.5:c.-62+4467A>T | ENSP00000458816.1:n.-62+4467A>T | |
| ENST00000572262.5:c.-62+4467A>T | ENSP00000459999.1:n.-62+4467A>T | |
| ENST00000574539.5:c.-62+4467A>T | ENSP00000458181.1:n.-62+4467A>T | |
| ENST00000575314.5:c.-62+4467A>T | ENSP00000458559.1:n.-62+4467A>T | |
| ENST00000576478.5:c.-62+4467A>T | ENSP00000461133.1:n.-62+4467A>T | |
| ENST00000576728.5:c.-62+4467A>T | ENSP00000459620.1:n.-62+4467A>T | |
| NM_001289114.1:c.-62+4467A>T | NP_001276043.1:n.-62+4467A>T | |
| NM_001289114.2:c.-62+4467A>T | NP_001276043.1:n.-62+4467A>T |