Linked Data
dbSNP Id:
rs890829638
gnomAD v2:
17-7521827-G-A
gnomAD v3:
17-7618509-G-A
gnomAD v4:
17-7618509-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7618509G>A , CM000679.2:g.7618509G>A | GRCh38 |
| NC_000017.10:g.7521827G>A , CM000679.1:g.7521827G>A | GRCh37 |
| NC_000017.9:g.7462552G>A | NCBI36 |
| NG_011981.2:g.9446G>A | |
| NG_028105.1:g.1389C>T , LRG_285:g.1389C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000570547.5:c.-62+4398G>A | ENSP00000458875.1:n.-62+4398G>A | |
| ENST00000572182.5:c.-62+4398G>A | ENSP00000458816.1:n.-62+4398G>A | |
| ENST00000572262.5:c.-62+4398G>A | ENSP00000459999.1:n.-62+4398G>A | |
| ENST00000574539.5:c.-62+4398G>A | ENSP00000458181.1:n.-62+4398G>A | |
| ENST00000575314.5:c.-62+4398G>A | ENSP00000458559.1:n.-62+4398G>A | |
| ENST00000576478.5:c.-62+4398G>A | ENSP00000461133.1:n.-62+4398G>A | |
| ENST00000576728.5:c.-62+4398G>A | ENSP00000459620.1:n.-62+4398G>A | |
| NM_001289114.1:c.-62+4398G>A | NP_001276043.1:n.-62+4398G>A | |
| NM_001289114.2:c.-62+4398G>A | NP_001276043.1:n.-62+4398G>A |