Linked Data
ClinVar Variation Id:
204276
dbSNP Id:
rs796052086
gnomAD v2:
10-99361676-C-T
gnomAD v3:
10-97601919-C-T
gnomAD v4:
10-97601919-C-T
PubMed:
PMID:21896830
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.97601919C>T , CM000672.2:g.97601919C>T | GRCh38 |
| NC_000010.10:g.99361676C>T , CM000672.1:g.99361676C>T | GRCh37 |
| NC_000010.9:g.99351666C>T | NCBI36 |
| NG_027922.1:g.22575C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370646.9:c.763C>T MANE Select | ENSP00000359680.4:p.Arg255Ter | |
| ENST00000370642.4:c.173C>T | ||
| ENST00000370646.8:c.763C>T | ENSP00000359680.4:p.Arg255Ter | |
| ENST00000370647.8:c.274C>T | ENSP00000359681.4:p.Arg92Ter | |
| ENST00000370649.3:c.274C>T | ENSP00000359683.3:p.Arg92Ter | |
| NM_001134670.1:c.274C>T | NP_001128142.1:p.Arg92Ter | |
| NM_138413.3:c.763C>T | NP_612422.2:p.Arg255Ter | |
| NM_138413.4:c.763C>T MANE Select | NP_612422.2:p.Arg255Ter | |
| NM_001134670.2:c.274C>T | NP_001128142.1:p.Arg92Ter |