Linked Data
ClinVar Variation Id:
2664386
dbSNP Id:
rs776628325
ExAC:
10:99358571 T / C
gnomAD v2:
10-99358571-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.97598814T>C , CM000672.2:g.97598814T>C | GRCh38 |
| NC_000010.10:g.99358571T>C , CM000672.1:g.99358571T>C | GRCh37 |
| NC_000010.9:g.99348561T>C | NCBI36 |
| NG_027922.1:g.19470T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370646.9:c.251T>C MANE Select | ENSP00000359680.4:p.Leu84Pro | |
| ENST00000370646.8:c.251T>C | ENSP00000359680.4:p.Leu84Pro | |
| ENST00000370647.8:c.212-3043T>C | ENSP00000359681.4:n.212-3043T>C | |
| ENST00000370649.3:c.212-3043T>C | ENSP00000359683.3:n.212-3043T>C | |
| ENST00000465608.1:n.632T>C | ||
| NM_001134670.1:c.212-3043T>C | NP_001128142.1:n.212-3043T>C | |
| NM_138413.3:c.251T>C | NP_612422.2:p.Leu84Pro | |
| NM_138413.4:c.251T>C MANE Select | NP_612422.2:p.Leu84Pro | |
| NM_001134670.2:c.212-3043T>C | NP_001128142.1:n.212-3043T>C |