Linked Data
dbSNP Id:
rs1393757524
gnomAD v2:
12-21329814-C-T
gnomAD v3:
12-21176880-C-T
gnomAD v4:
12-21176880-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21176880C>T , CM000674.2:g.21176880C>T | GRCh38 |
| NC_000012.11:g.21329814C>T , CM000674.1:g.21329814C>T | GRCh37 |
| NC_000012.10:g.21221081C>T | NCBI36 |
| NG_011745.1:g.50687C>T , LRG_1022:g.50687C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000256958.3:c.464C>T MANE Select | ENSP00000256958.2:p.Pro155Leu | |
| ENST00000256958.2:c.464C>T | ENSP00000256958.2:p.Pro155Leu | |
| ENST00000543498.5:c.530C>T | ||
| NM_006446.4:c.464C>T , LRG_1022t1:c.464C>T | NP_006437.3:p.Pro155Leu | |
| NM_006446.5:c.464C>T MANE Select | NP_006437.3:p.Pro155Leu |