gnomAD v2:
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90778008C>T , CM000667.2:g.90778008C>T | GRCh38 |
| NC_000005.9:g.90073825C>T , CM000667.1:g.90073825C>T | GRCh37 |
| NC_000005.8:g.90109581C>T | NCBI36 |
| NG_007083.1:g.224209C>T | |
| NG_007083.2:g.253665C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.12631C>T MANE Select | ENSP00000384582.2:p.Arg4211Ter | |
| ENST00000425867.3:c.1585C>T | ENSP00000392618.3:p.Arg529Ter | |
| ENST00000639431.1:c.265+101799C>T | ENSP00000491057.1:n.265+101799C>T | |
| ENST00000640464.1:n.3050C>T | ||
| ENST00000640729.1:n.1208C>T | ||
| ENST00000405460.6:c.12631C>T | ENSP00000384582.2:p.Arg4211Ter | |
| NM_032119.3:c.12631C>T | NP_115495.3:p.Arg4211Ter | |
| NR_003149.1:n.12644C>T | ||
| XM_011543675.1:c.12628C>T | XP_011541977.1:p.Arg4210Ter | |
| XM_011543676.1:c.12550C>T | XP_011541978.1:p.Arg4184Ter | |
| XM_011543677.1:c.9934C>T | XP_011541979.1:p.Arg3312Ter | |
| XM_011543678.1:c.12631C>T | XP_011541980.1:p.Arg4211Ter | |
| NM_032119.4:c.12631C>T MANE Select | NP_115495.3:p.Arg4211Ter | |
| XM_017009963.2:c.12652C>T | XP_016865452.1:p.Arg4218Ter | |
| XM_017009964.2:c.12649C>T | XP_016865453.1:p.Arg4217Ter | |
| XM_017009965.1:c.12649C>T | XP_016865454.1:p.Arg4217Ter | |
| XM_017009966.2:c.12571C>T | XP_016865455.1:p.Arg4191Ter | |
| XM_017009967.1:c.12556C>T | XP_016865456.1:p.Arg4186Ter | |
| XM_017009968.2:c.12652C>T | XP_016865457.1:p.Arg4218Ter | |
| XM_017009969.2:c.12652C>T | XP_016865458.1:p.Arg4218Ter | |
| XM_017009970.2:c.12652C>T | XP_016865459.1:p.Arg4218Ter | |
| XM_017009971.2:c.12652C>T | XP_016865460.1:p.Arg4218Ter | |
| XM_017009972.1:c.5770C>T | XP_016865461.1:p.Arg1924Ter | |
| XM_017009973.1:c.5749C>T | XP_016865462.1:p.Arg1917Ter | |
| NR_003149.2:n.12647C>T |