Linked Data
ClinVar Variation Id:
2123446
ClinVar RCV Id:
RCV003035416
dbSNP Id:
rs1484688327
gnomAD v4:
5-90745060-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90745060A>G , CM000667.2:g.90745060A>G | GRCh38 |
| NC_000005.9:g.90040877A>G , CM000667.1:g.90040877A>G | GRCh37 |
| NC_000005.8:g.90076633A>G | NCBI36 |
| NG_007083.1:g.191261A>G | |
| NG_007083.2:g.220717A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000405460.9:c.10564A>G MANE Select | ENSP00000384582.2:p.Ile3522Val | |
| ENST00000639431.1:c.265+68851A>G | ENSP00000491057.1:n.265+68851A>G | |
| ENST00000640374.1:n.3708A>G | ||
| ENST00000640464.1:n.983A>G | ||
| ENST00000405460.6:c.10564A>G | ENSP00000384582.2:p.Ile3522Val | |
| ENST00000509621.1:c.3261A>G | ||
| NM_032119.3:c.10564A>G | NP_115495.3:p.Ile3522Val | |
| NR_003149.1:n.10577A>G | ||
| XM_011543675.1:c.10561A>G | XP_011541977.1:p.Ile3521Val | |
| XM_011543676.1:c.10483A>G | XP_011541978.1:p.Ile3495Val | |
| XM_011543677.1:c.7867A>G | XP_011541979.1:p.Ile2623Val | |
| XM_011543678.1:c.10564A>G | XP_011541980.1:p.Ile3522Val | |
| XM_011543679.1:c.10564A>G | XP_011541981.1:p.Ile3522Val | |
| NM_032119.4:c.10564A>G MANE Select | NP_115495.3:p.Ile3522Val | |
| XM_017009963.2:c.10585A>G | XP_016865452.1:p.Ile3529Val | |
| XM_017009964.2:c.10582A>G | XP_016865453.1:p.Ile3528Val | |
| XM_017009965.1:c.10582A>G | XP_016865454.1:p.Ile3528Val | |
| XM_017009966.2:c.10504A>G | XP_016865455.1:p.Ile3502Val | |
| XM_017009967.1:c.10489A>G | XP_016865456.1:p.Ile3497Val | |
| XM_017009968.2:c.10585A>G | XP_016865457.1:p.Ile3529Val | |
| XM_017009969.2:c.10585A>G | XP_016865458.1:p.Ile3529Val | |
| XM_017009970.2:c.10585A>G | XP_016865459.1:p.Ile3529Val | |
| XM_017009971.2:c.10585A>G | XP_016865460.1:p.Ile3529Val | |
| XM_017009972.1:c.3703A>G | XP_016865461.1:p.Ile1235Val | |
| XM_017009973.1:c.3682A>G | XP_016865462.1:p.Ile1228Val | |
| XM_017009974.2:c.10585A>G | XP_016865463.1:p.Ile3529Val | |
| NR_003149.2:n.10580A>G |