Linked Data
ClinVar Variation Id:
933742
dbSNP Id:
rs774476997
MyVariant Identifiers:
chr9:g.133327678C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130452291C>A , CM000671.2:g.130452291C>A | GRCh38 |
| NC_000009.11:g.133327678C>A , CM000671.1:g.133327678C>A | GRCh37 |
| NC_000009.10:g.132317499C>A | NCBI36 |
| NG_011542.1:g.12585C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352480.10:c.63C>A MANE Select | ENSP00000253004.6:p.Leu21= | |
| ENST00000352480.9:c.63C>A | ENSP00000253004.6:p.Leu21= | |
| ENST00000372393.7:c.63C>A | ENSP00000361469.2:p.Leu21= | |
| ENST00000372394.5:c.63C>A | ENSP00000361471.1:p.Leu21= | |
| ENST00000422569.5:c.63C>A | ENSP00000394212.1:p.Leu21= | |
| ENST00000443588.1:c.63C>A | ENSP00000397785.1:p.Leu21= | |
| NM_000050.4:c.63C>A | NP_000041.2:p.Leu21= | |
| NM_054012.3:c.63C>A | NP_446464.1:p.Leu21= | |
| XM_005272200.2:c.63C>A | XP_005272257.1:p.Leu21= | |
| XM_011518705.1:c.177C>A | XP_011517007.1:p.Leu59= | |
| XM_005272200.3:c.63C>A | XP_005272257.1:p.Leu21= | |
| XM_011518705.2:c.177C>A | XP_011517007.1:p.Leu59= | |
| XM_017014729.1:c.159C>A | XP_016870218.1:p.Leu53= | |
| NM_054012.4:c.63C>A MANE Select | NP_446464.1:p.Leu21= |