Linked Data
dbSNP Id:
rs1264327
gnomAD v2:
6-30850582-G-A
gnomAD v3:
6-30882805-G-A
gnomAD v4:
6-30882805-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.30882805G>A , CM000668.2:g.30882805G>A | GRCh38 |
| NC_000006.11:g.30850582G>A , CM000668.1:g.30850582G>A | GRCh37 |
| NC_000006.10:g.30958561G>A | NCBI36 |
| NG_029066.1:g.3722G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000324771.12:c.-272+1680G>A | ENSP00000318217.8:n.-272+1680G>A | |
| ENST00000418800.6:c.-221G>A | ENSP00000407699.2:n.-221G>A | |
| ENST00000460944.6:c.-43+1680G>A | ENSP00000426420.1:n.-43+1680G>A | |
| ENST00000482050.1:n.76+1435G>A | ||
| ENST00000502955.5:c.-43+1680G>A | ENSP00000424346.1:n.-43+1680G>A | |
| ENST00000503180.5:c.-216+812G>A | ENSP00000424468.1:n.-216+812G>A | |
| ENST00000505066.5:c.-42-5883G>A | ENSP00000421189.1:n.-42-5883G>A | |
| ENST00000505534.5:c.-216+1680G>A | ENSP00000420833.1:n.-216+1680G>A | |
| ENST00000508317.5:c.-99+1680G>A | ENSP00000427369.1:n.-99+1680G>A | |
| ENST00000513749.5:c.-43+1680G>A | ENSP00000421753.1:n.-43+1680G>A | |
| NM_001297652.1:c.-221G>A | NP_001284581.1:n.-221G>A | |
| XM_011514884.1:c.-272+1680G>A | XP_011513186.1:n.-272+1680G>A | |
| XM_011514887.1:c.-43+1680G>A | XP_011513189.1:n.-43+1680G>A | |
| XM_011514887.2:c.-43+1680G>A | XP_011513189.1:n.-43+1680G>A | |
| XM_017011269.2:c.-43+1680G>A | XP_016866758.1:n.-43+1680G>A | |
| NM_001387893.1:c.-43+1680G>A | NP_001374822.1:n.-43+1680G>A | |
| NM_001387908.1:c.-43+1680G>A | NP_001374837.1:n.-43+1680G>A | |
| NM_001387909.1:c.-99+1680G>A | NP_001374838.1:n.-99+1680G>A |