Linked Data
ClinVar Variation Id:
192347
dbSNP Id:
rs749355583
gnomAD v4:
6-142309560-C-T
PubMed:
PMID:26004201
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.142309560C>T , CM000668.2:g.142309560C>T | GRCh38 |
| NC_000006.11:g.142630697C>T , CM000668.1:g.142630697C>T | GRCh37 |
| NC_000006.10:g.142672390C>T | NCBI36 |
| NG_011839.1:g.12642C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296932.13:c.19C>T | ENSP00000296932.8:p.Arg7Ter | |
| ENST00000367609.8:c.19C>T MANE Select | ENSP00000356581.3:p.Arg7Ter | |
| ENST00000230173.10:c.19C>T | ENSP00000230173.6:p.Arg7Ter | |
| ENST00000296932.12:c.19C>T | ENSP00000296932.8:p.Arg7Ter | |
| ENST00000367608.6:c.19C>T | ENSP00000356580.2:p.Arg7Ter | |
| ENST00000367609.7:c.19C>T | ENSP00000356581.3:p.Arg7Ter | |
| ENST00000415128.6:n.399C>T | ||
| ENST00000435011.6:c.16C>T | ENSP00000438366.1:p.Arg6Ter | |
| ENST00000541199.5:c.16C>T | ENSP00000446287.1:p.Arg6Ter | |
| ENST00000545477.1:n.131C>T | ||
| NM_001032394.2:c.19C>T | NP_001027566.1:p.Arg7Ter | |
| NM_001032395.2:c.19C>T | NP_001027567.1:p.Arg7Ter | |
| NM_020455.5:c.19C>T | NP_065188.4:p.Arg7Ter | |
| NM_198569.2:c.19C>T | NP_940971.1:p.Arg7Ter | |
| XM_005267061.2:c.19C>T | XP_005267118.1:p.Arg7Ter | |
| XM_006715516.2:c.19C>T | XP_006715579.1:p.Arg7Ter | |
| XM_006715517.2:c.16C>T | XP_006715580.1:p.Arg6Ter | |
| XM_006715518.2:c.19C>T | XP_006715581.1:p.Arg7Ter | |
| XM_011535964.1:c.16C>T | XP_011534266.1:p.Arg6Ter | |
| XM_005267061.3:c.19C>T | XP_005267118.1:p.Arg7Ter | |
| XM_017011085.1:c.19C>T | XP_016866574.1:p.Arg7Ter | |
| NM_198569.3:c.19C>T MANE Select | NP_940971.2:p.Arg7Ter | |
| NM_001032394.3:c.19C>T | NP_001027566.2:p.Arg7Ter | |
| NM_001032395.3:c.19C>T | NP_001027567.2:p.Arg7Ter | |
| NM_020455.6:c.19C>T | NP_065188.5:p.Arg7Ter |