Linked Data
ClinVar Variation Id:
1522266
ClinVar RCV Id:
RCV002034332
dbSNP Id:
rs142221856
gnomAD v3:
9-130452322-A-G
gnomAD v4:
9-130452322-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130452322A>G , CM000671.2:g.130452322A>G | GRCh38 |
| NC_000009.11:g.133327709A>G , CM000671.1:g.133327709A>G | GRCh37 |
| NC_000009.10:g.132317530A>G | NCBI36 |
| NG_011542.1:g.12616A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352480.10:c.94A>G MANE Select | ENSP00000253004.6:p.Ile32Val | |
| ENST00000352480.9:c.94A>G | ENSP00000253004.6:p.Ile32Val | |
| ENST00000372393.7:c.94A>G | ENSP00000361469.2:p.Ile32Val | |
| ENST00000372394.5:c.94A>G | ENSP00000361471.1:p.Ile32Val | |
| ENST00000422569.5:c.94A>G | ENSP00000394212.1:p.Ile32Val | |
| ENST00000443588.1:c.94A>G | ENSP00000397785.1:p.Ile32Val | |
| NM_000050.4:c.94A>G | NP_000041.2:p.Ile32Val | |
| NM_054012.3:c.94A>G | NP_446464.1:p.Ile32Val | |
| XM_005272200.2:c.94A>G | XP_005272257.1:p.Ile32Val | |
| XM_011518705.1:c.208A>G | XP_011517007.1:p.Ile70Val | |
| XM_005272200.3:c.94A>G | XP_005272257.1:p.Ile32Val | |
| XM_011518705.2:c.208A>G | XP_011517007.1:p.Ile70Val | |
| XM_017014729.1:c.190A>G | XP_016870218.1:p.Ile64Val | |
| NM_054012.4:c.94A>G MANE Select | NP_446464.1:p.Ile32Val |