Linked Data
ClinVar Variation Id:
92368
dbSNP Id:
rs398123130
gnomAD v3:
9-130470832-A-G
gnomAD v4:
9-130470832-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130470832A>G , CM000671.2:g.130470832A>G | GRCh38 |
| NC_000009.11:g.133346219A>G , CM000671.1:g.133346219A>G | GRCh37 |
| NC_000009.10:g.132336040A>G | NCBI36 |
| NG_011542.1:g.31126A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000352480.10:c.496-2A>G MANE Select | ENSP00000253004.6:n.496-2A>G | |
| ENST00000352480.9:c.496-2A>G | ENSP00000253004.6:n.496-2A>G | |
| ENST00000372393.7:c.496-2A>G | ENSP00000361469.2:n.496-2A>G | |
| ENST00000372394.5:c.496-2A>G | ENSP00000361471.1:n.496-2A>G | |
| ENST00000422569.5:c.496-2A>G | ENSP00000394212.1:n.496-2A>G | |
| ENST00000443588.1:c.439-2A>G | ENSP00000397785.1:n.439-2A>G | |
| ENST00000467695.5:n.205-2A>G | ||
| ENST00000493984.6:n.327-2A>G | ||
| NM_000050.4:c.496-2A>G | NP_000041.2:n.496-2A>G | |
| NM_054012.3:c.496-2A>G | NP_446464.1:n.496-2A>G | |
| XM_005272200.2:c.496-2A>G | XP_005272257.1:n.496-2A>G | |
| XM_011518705.1:c.610-2A>G | XP_011517007.1:n.610-2A>G | |
| XM_005272200.3:c.496-2A>G | XP_005272257.1:n.496-2A>G | |
| XM_011518705.2:c.610-2A>G | XP_011517007.1:n.610-2A>G | |
| XM_017014729.1:c.592-2A>G | XP_016870218.1:n.592-2A>G | |
| NM_054012.4:c.496-2A>G MANE Select | NP_446464.1:n.496-2A>G |