Linked Data
ClinVar Variation Id:
375405
dbSNP Id:
rs369793306
gnomAD v2:
5-90072302-C-T
gnomAD v3:
5-90776485-C-T
gnomAD v4:
5-90776485-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90776485C>T , CM000667.2:g.90776485C>T | GRCh38 |
| NC_000005.9:g.90072302C>T , CM000667.1:g.90072302C>T | GRCh37 |
| NC_000005.8:g.90108058C>T | NCBI36 |
| NG_007083.1:g.222686C>T | |
| NG_007083.2:g.252142C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.12436C>T MANE Select | ENSP00000384582.2:p.Arg4146Ter | |
| ENST00000425867.3:c.1390C>T | ENSP00000392618.3:p.Arg464Ter | |
| ENST00000639431.1:c.265+100276C>T | ENSP00000491057.1:n.265+100276C>T | |
| ENST00000640464.1:n.2855C>T | ||
| ENST00000640729.1:n.1013C>T | ||
| ENST00000405460.6:c.12436C>T | ENSP00000384582.2:p.Arg4146Ter | |
| NM_032119.3:c.12436C>T | NP_115495.3:p.Arg4146Ter | |
| NR_003149.1:n.12449C>T | ||
| XM_011543675.1:c.12433C>T | XP_011541977.1:p.Arg4145Ter | |
| XM_011543676.1:c.12355C>T | XP_011541978.1:p.Arg4119Ter | |
| XM_011543677.1:c.9739C>T | XP_011541979.1:p.Arg3247Ter | |
| XM_011543678.1:c.12436C>T | XP_011541980.1:p.Arg4146Ter | |
| NM_032119.4:c.12436C>T MANE Select | NP_115495.3:p.Arg4146Ter | |
| XM_017009963.2:c.12457C>T | XP_016865452.1:p.Arg4153Ter | |
| XM_017009964.2:c.12454C>T | XP_016865453.1:p.Arg4152Ter | |
| XM_017009965.1:c.12454C>T | XP_016865454.1:p.Arg4152Ter | |
| XM_017009966.2:c.12376C>T | XP_016865455.1:p.Arg4126Ter | |
| XM_017009967.1:c.12361C>T | XP_016865456.1:p.Arg4121Ter | |
| XM_017009968.2:c.12457C>T | XP_016865457.1:p.Arg4153Ter | |
| XM_017009969.2:c.12457C>T | XP_016865458.1:p.Arg4153Ter | |
| XM_017009970.2:c.12457C>T | XP_016865459.1:p.Arg4153Ter | |
| XM_017009971.2:c.12457C>T | XP_016865460.1:p.Arg4153Ter | |
| XM_017009972.1:c.5575C>T | XP_016865461.1:p.Arg1859Ter | |
| XM_017009973.1:c.5554C>T | XP_016865462.1:p.Arg1852Ter | |
| NR_003149.2:n.12452C>T |