Linked Data
ClinVar Variation Id:
31603
dbSNP Id:
rs72558199
ExAC:
10:101591826 C / T
gnomAD v2:
10-101591826-C-T
gnomAD v3:
10-99832069-C-T
gnomAD v4:
10-99832069-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99832069C>T , CM000672.2:g.99832069C>T | GRCh38 |
| NC_000010.10:g.101591826C>T , CM000672.1:g.101591826C>T | GRCh37 |
| NC_000010.9:g.101581816C>T | NCBI36 |
| NG_011798.1:g.54364C>T | |
| NG_011798.2:g.54472C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647814.1:c.3196C>T MANE Select | ENSP00000497274.1:p.Arg1066Ter | |
| ENST00000370449.8:c.3196C>T | ENSP00000359478.4:p.Arg1066Ter | |
| NM_000392.4:c.3196C>T | NP_000383.1:p.Arg1066Ter | |
| XM_006717630.2:c.2500C>T | XP_006717693.1:p.Arg834Ter | |
| XR_945604.1:n.3385C>T | ||
| XR_945605.1:n.3387C>T | ||
| NM_000392.5:c.3196C>T MANE Select | NP_000383.2:p.Arg1066Ter | |
| XM_006717630.3:c.2500C>T | XP_006717693.1:p.Arg834Ter | |
| XR_945604.3:n.3439C>T | ||
| XR_945605.3:n.3439C>T |