Linked Data
ClinVar Variation Id:
426661
dbSNP Id:
rs895822620
gnomAD v2:
9-133333875-C-A
gnomAD v4:
9-130458488-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130458488C>A , CM000671.2:g.130458488C>A | GRCh38 |
| NC_000009.11:g.133333875C>A , CM000671.1:g.133333875C>A | GRCh37 |
| NC_000009.10:g.132323696C>A | NCBI36 |
| NG_011542.1:g.18782C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352480.10:c.262C>A MANE Select | ENSP00000253004.6:p.Leu88Ile | |
| ENST00000352480.9:c.262C>A | ENSP00000253004.6:p.Leu88Ile | |
| ENST00000372393.7:c.262C>A | ENSP00000361469.2:p.Leu88Ile | |
| ENST00000372394.5:c.262C>A | ENSP00000361471.1:p.Leu88Ile | |
| ENST00000422569.5:c.262C>A | ENSP00000394212.1:p.Leu88Ile | |
| ENST00000443588.1:c.262C>A | ENSP00000397785.1:p.Leu88Ile | |
| NM_000050.4:c.262C>A | NP_000041.2:p.Leu88Ile | |
| NM_054012.3:c.262C>A | NP_446464.1:p.Leu88Ile | |
| XM_005272200.2:c.262C>A | XP_005272257.1:p.Leu88Ile | |
| XM_011518705.1:c.376C>A | XP_011517007.1:p.Leu126Ile | |
| XM_005272200.3:c.262C>A | XP_005272257.1:p.Leu88Ile | |
| XM_011518705.2:c.376C>A | XP_011517007.1:p.Leu126Ile | |
| XM_017014729.1:c.358C>A | XP_016870218.1:p.Leu120Ile | |
| NM_054012.4:c.262C>A MANE Select | NP_446464.1:p.Leu88Ile |