Revel Score:
ENST00000405460 (MANE Select)
0.054
ENST00000296619
0.054
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90778008C>G , CM000667.2:g.90778008C>G | GRCh38 |
| NC_000005.9:g.90073825C>G , CM000667.1:g.90073825C>G | GRCh37 |
| NC_000005.8:g.90109581C>G | NCBI36 |
| NG_007083.1:g.224209C>G | |
| NG_007083.2:g.253665C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.12631C>G MANE Select | ENSP00000384582.2:p.Arg4211Gly | |
| ENST00000425867.3:c.1585C>G | ENSP00000392618.3:p.Arg529Gly | |
| ENST00000639431.1:c.265+101799C>G | ENSP00000491057.1:n.265+101799C>G | |
| ENST00000640464.1:n.3050C>G | ||
| ENST00000640729.1:n.1208C>G | ||
| ENST00000405460.6:c.12631C>G | ENSP00000384582.2:p.Arg4211Gly | |
| NM_032119.3:c.12631C>G | NP_115495.3:p.Arg4211Gly | |
| NR_003149.1:n.12644C>G | ||
| XM_011543675.1:c.12628C>G | XP_011541977.1:p.Arg4210Gly | |
| XM_011543676.1:c.12550C>G | XP_011541978.1:p.Arg4184Gly | |
| XM_011543677.1:c.9934C>G | XP_011541979.1:p.Arg3312Gly | |
| XM_011543678.1:c.12631C>G | XP_011541980.1:p.Arg4211Gly | |
| NM_032119.4:c.12631C>G MANE Select | NP_115495.3:p.Arg4211Gly | |
| XM_017009963.2:c.12652C>G | XP_016865452.1:p.Arg4218Gly | |
| XM_017009964.2:c.12649C>G | XP_016865453.1:p.Arg4217Gly | |
| XM_017009965.1:c.12649C>G | XP_016865454.1:p.Arg4217Gly | |
| XM_017009966.2:c.12571C>G | XP_016865455.1:p.Arg4191Gly | |
| XM_017009967.1:c.12556C>G | XP_016865456.1:p.Arg4186Gly | |
| XM_017009968.2:c.12652C>G | XP_016865457.1:p.Arg4218Gly | |
| XM_017009969.2:c.12652C>G | XP_016865458.1:p.Arg4218Gly | |
| XM_017009970.2:c.12652C>G | XP_016865459.1:p.Arg4218Gly | |
| XM_017009971.2:c.12652C>G | XP_016865460.1:p.Arg4218Gly | |
| XM_017009972.1:c.5770C>G | XP_016865461.1:p.Arg1924Gly | |
| XM_017009973.1:c.5749C>G | XP_016865462.1:p.Arg1917Gly | |
| NR_003149.2:n.12647C>G |