Linked Data
dbSNP Id:
rs955300432
gnomAD v2:
10-96609960-C-T
gnomAD v3:
10-94850203-C-T
gnomAD v4:
10-94850203-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94850203C>T , CM000672.2:g.94850203C>T | GRCh38 |
| NC_000010.10:g.96609960C>T , CM000672.1:g.96609960C>T | GRCh37 |
| NC_000010.9:g.96599950C>T | NCBI36 |
| NG_008384.2:g.92498C>T | |
| NG_008384.3:g.92523C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.1291+145C>T MANE Select | ENSP00000360372.3:n.1291+145C>T | |
| ENST00000645461.1:n.2202+145C>T | ||
| ENST00000371321.7:c.1291+145C>T | ENSP00000360372.3:n.1291+145C>T | |
| ENST00000464755.1:c.2054+145C>T | ENSP00000483243.1:n.2054+145C>T | |
| NM_000769.2:c.1291+145C>T | NP_000760.1:n.1291+145C>T | |
| NM_000769.4:c.1291+145C>T MANE Select | NP_000760.1:n.1291+145C>T |