Linked Data
dbSNP Id:
rs2226006
gnomAD v2:
9-120137758-C-T
gnomAD v3:
9-117375479-C-T
gnomAD v4:
9-117375479-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.117375479C>T , CM000671.2:g.117375479C>T | GRCh38 |
| NC_000009.11:g.120137758C>T , CM000671.1:g.120137758C>T | GRCh37 |
| NC_000009.10:g.119177579C>T | NCBI36 |
| NG_021409.1:g.44560G>A | |
| NG_021409.2:g.44579G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000313400.9:c.442+39018G>A MANE Select | ENSP00000314038.4:n.442+39018G>A | |
| ENST00000361477.8:c.442+39018G>A | ENSP00000355116.5:n.442+39018G>A | |
| ENST00000313400.8:c.442+39018G>A | ENSP00000314038.4:n.442+39018G>A | |
| ENST00000361209.6:c.442+39018G>A | ENSP00000354504.2:n.442+39018G>A | |
| ENST00000361477.7:c.-2250+39018G>A | ENSP00000355116.4:n.-2250+39018G>A | |
| NM_014010.4:c.442+39018G>A | NP_054729.3:n.442+39018G>A | |
| NM_001365068.1:c.442+39018G>A MANE Select | NP_001351997.1:n.442+39018G>A | |
| NM_001365069.1:c.442+39018G>A | NP_001351998.1:n.442+39018G>A | |
| NM_014010.5:c.442+39018G>A | NP_054729.3:n.442+39018G>A |