Linked Data
ClinVar Variation Id:
438170
dbSNP Id:
rs749956288
ExAC:
5:90149210 C / T
gnomAD v2:
5-90149210-C-T
gnomAD v3:
5-90853393-C-T
gnomAD v4:
5-90853393-C-T
COSMIC:
COSM3429750
PubMed:
PMID:28041643
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90853393C>T , CM000667.2:g.90853393C>T | GRCh38 |
| NC_000005.9:g.90149210C>T , CM000667.1:g.90149210C>T | GRCh37 |
| NC_000005.8:g.90184966C>T | NCBI36 |
| NG_007083.1:g.299594C>T | |
| NG_007083.2:g.329050C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.17314C>T MANE Select | ENSP00000384582.2:p.Arg5772Ter | |
| ENST00000425867.3:c.6268C>T | ENSP00000392618.3:p.Arg2090Ter | |
| ENST00000505845.2:n.505C>T | ||
| ENST00000638510.1:n.4581C>T | ||
| ENST00000638990.1:c.526C>T | ||
| ENST00000639431.1:c.266-131951C>T | ENSP00000491057.1:n.266-131951C>T | |
| ENST00000640407.1:c.3763C>T | ENSP00000491425.1:n.3763C>T | |
| ENST00000405460.6:c.17314C>T | ENSP00000384582.2:p.Arg5772Ter | |
| ENST00000425867.2:c.4297C>T | ENSP00000392618.2:p.Arg1433Ter | |
| NM_032119.3:c.17314C>T | NP_115495.3:p.Arg5772Ter | |
| NR_003149.1:n.17327C>T | ||
| XM_011543675.1:c.17311C>T | XP_011541977.1:p.Arg5771Ter | |
| XM_011543676.1:c.17233C>T | XP_011541978.1:p.Arg5745Ter | |
| XM_011543677.1:c.14617C>T | XP_011541979.1:p.Arg4873Ter | |
| NM_032119.4:c.17314C>T MANE Select | NP_115495.3:p.Arg5772Ter | |
| XM_017009963.2:c.17335C>T | XP_016865452.1:p.Arg5779Ter | |
| XM_017009964.2:c.17332C>T | XP_016865453.1:p.Arg5778Ter | |
| XM_017009965.1:c.17332C>T | XP_016865454.1:p.Arg5778Ter | |
| XM_017009966.2:c.17254C>T | XP_016865455.1:p.Arg5752Ter | |
| XM_017009967.1:c.17239C>T | XP_016865456.1:p.Arg5747Ter | |
| XM_017009968.2:c.17155C>T | XP_016865457.1:p.Arg5719Ter | |
| XM_017009969.2:c.17335C>T | XP_016865458.1:p.Arg5779Ter | |
| XM_017009972.1:c.10453C>T | XP_016865461.1:p.Arg3485Ter | |
| XM_017009973.1:c.10432C>T | XP_016865462.1:p.Arg3478Ter | |
| NR_003149.2:n.17330C>T |