Linked Data
gnomAD v4:
12-21176880-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21176880C>A , CM000674.2:g.21176880C>A | GRCh38 |
| NC_000012.11:g.21329814C>A , CM000674.1:g.21329814C>A | GRCh37 |
| NC_000012.10:g.21221081C>A | NCBI36 |
| NG_011745.1:g.50687C>A , LRG_1022:g.50687C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000256958.3:c.464C>A MANE Select | ENSP00000256958.2:p.Pro155His | |
| ENST00000256958.2:c.464C>A | ENSP00000256958.2:p.Pro155His | |
| ENST00000543498.5:c.530C>A | ||
| NM_006446.4:c.464C>A , LRG_1022t1:c.464C>A | NP_006437.3:p.Pro155His | |
| NM_006446.5:c.464C>A MANE Select | NP_006437.3:p.Pro155His |