Linked Data
dbSNP Id:
rs775888452
ExAC:
10:96612668 C / T
gnomAD v2:
10-96612668-C-T
gnomAD v4:
10-94852911-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94852911C>T , CM000672.2:g.94852911C>T | GRCh38 |
| NC_000010.10:g.96612668C>T , CM000672.1:g.96612668C>T | GRCh37 |
| NC_000010.9:g.96602658C>T | NCBI36 |
| NG_008384.2:g.95206C>T | |
| NG_008384.3:g.95231C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.1470C>T MANE Select | ENSP00000360372.3:p.Val490= | |
| ENST00000645461.1:n.2381C>T | ||
| ENST00000371321.7:c.1470C>T | ENSP00000360372.3:p.Val490= | |
| ENST00000464755.1:c.2233C>T | ENSP00000483243.1:n.2233C>T | |
| NM_000769.2:c.1470C>T | NP_000760.1:p.Val490= | |
| NM_000769.4:c.1470C>T MANE Select | NP_000760.1:p.Val490= |