Linked Data
dbSNP Id:
rs1175075405
gnomAD v2:
12-21327625-C-T
gnomAD v3:
12-21174691-C-T
gnomAD v4:
12-21174691-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21174691C>T , CM000674.2:g.21174691C>T | GRCh38 |
| NC_000012.11:g.21327625C>T , CM000674.1:g.21327625C>T | GRCh37 |
| NC_000012.10:g.21218892C>T | NCBI36 |
| NG_011745.1:g.48498C>T , LRG_1022:g.48498C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256958.3:c.341C>T MANE Select | ENSP00000256958.2:p.Pro114Leu | |
| ENST00000256958.2:c.341C>T | ENSP00000256958.2:p.Pro114Leu | |
| ENST00000543498.5:c.426-2085C>T | ||
| NM_006446.4:c.341C>T , LRG_1022t1:c.341C>T | NP_006437.3:p.Pro114Leu | |
| NM_006446.5:c.341C>T MANE Select | NP_006437.3:p.Pro114Leu |