Linked Data
ClinVar Variation Id:
2040
ClinVar RCV Id:
RCV000002120
dbSNP Id:
rs104893678
ExAC:
3:97506848 C / T
gnomAD v2:
3-97506848-C-T
gnomAD v4:
3-97788004-C-T
COSMIC:
COSM1425898
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.97788004C>T , CM000665.2:g.97788004C>T | GRCh38 |
| NC_000003.11:g.97506848C>T , CM000665.1:g.97506848C>T | GRCh37 |
| NC_000003.10:g.98989538C>T | NCBI36 |
| NG_008119.1:g.28254C>T | |
| NG_008119.2:g.28254C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000462412.3:c.364C>T | ENSP00000418740.2:p.Arg122Ter | |
| ENST00000631834.2:c.364C>T | ENSP00000488530.2:p.Arg122Ter | |
| ENST00000463745.6:c.364C>T MANE Select | ENSP00000419619.1:p.Arg122Ter | |
| ENST00000335979.6:c.364C>T | ENSP00000337722.2:p.Arg122Ter | |
| ENST00000394206.5:c.364C>T | ENSP00000377756.1:p.Arg122Ter | |
| ENST00000463745.5:c.364C>T | ENSP00000419619.1:p.Arg122Ter | |
| ENST00000476753.1:c.48C>T | ||
| ENST00000493990.5:c.364C>T | ENSP00000418057.1:p.Arg122Ter | |
| ENST00000496713.1:n.602C>T | ||
| ENST00000631834.1:c.226C>T | ENSP00000488530.1:p.Arg76Ter | |
| NM_001278293.1:c.364C>T | NP_001265222.1:p.Arg122Ter | |
| NM_032146.4:c.364C>T | NP_115522.1:p.Arg122Ter | |
| NM_177976.2:c.364C>T | NP_816931.1:p.Arg122Ter | |
| NR_103511.1:n.947C>T | ||
| XM_006713779.2:c.364C>T | XP_006713842.1:p.Arg122Ter | |
| XM_006713783.2:c.364C>T | XP_006713846.1:p.Arg122Ter | |
| XM_011513230.1:c.364C>T | XP_011511532.1:p.Arg122Ter | |
| XR_924184.1:n.836C>T | ||
| XR_924185.1:n.942C>T | ||
| XR_924186.1:n.989C>T | ||
| XR_924187.1:n.836C>T | ||
| XR_924188.1:n.890C>T | ||
| XR_924189.1:n.836C>T | ||
| NM_001278293.2:c.364C>T | NP_001265222.1:p.Arg122Ter | |
| NM_001323513.1:c.364C>T | NP_001310442.1:p.Arg122Ter | |
| NM_001323514.1:c.364C>T | NP_001310443.1:p.Arg122Ter | |
| NM_032146.5:c.364C>T | NP_115522.1:p.Arg122Ter | |
| NM_177976.3:c.364C>T | NP_816931.1:p.Arg122Ter | |
| NR_136595.1:n.947C>T | ||
| NR_136597.1:n.848C>T | ||
| NR_136598.1:n.852C>T | ||
| NR_136600.1:n.848C>T | ||
| NR_136601.1:n.848C>T | ||
| NR_136602.1:n.848C>T | ||
| XM_017007311.2:c.364C>T | XP_016862800.1:p.Arg122Ter | |
| XM_017007312.2:c.364C>T | XP_016862801.1:p.Arg122Ter | |
| XR_001740319.2:n.2788C>T | ||
| XR_001740321.2:n.2788C>T | ||
| XR_002959599.1:n.2847C>T | ||
| XR_924184.3:n.2788C>T | ||
| XR_924185.3:n.2887C>T | ||
| XR_924186.3:n.2946C>T | ||
| XR_924187.3:n.2788C>T | ||
| XR_924188.3:n.2847C>T | ||
| XR_924189.3:n.2788C>T | ||
| NM_001278293.3:c.364C>T MANE Select | NP_001265222.1:p.Arg122Ter | |
| NM_001323513.2:c.364C>T | NP_001310442.1:p.Arg122Ter | |
| NM_001323514.2:c.364C>T | NP_001310443.1:p.Arg122Ter | |
| NR_103511.2:n.710C>T | ||
| NR_136595.2:n.710C>T | ||
| NR_136597.2:n.611C>T | ||
| NR_136598.2:n.615C>T | ||
| NR_136600.2:n.611C>T | ||
| NR_136601.2:n.611C>T | ||
| NR_136602.2:n.611C>T | ||
| NR_103511.3:n.710C>T | ||
| NR_136600.3:n.611C>T | ||
| NR_136601.3:n.611C>T | ||
| NR_136602.3:n.611C>T |