Linked Data
gnomAD v4:
12-21178537-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21178537A>C , CM000674.2:g.21178537A>C | GRCh38 |
| NC_000012.11:g.21331471A>C , CM000674.1:g.21331471A>C | GRCh37 |
| NC_000012.10:g.21222738A>C | NCBI36 |
| NG_011745.1:g.52344A>C , LRG_1022:g.52344A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000256958.3:c.482-39A>C MANE Select | ENSP00000256958.2:n.482-39A>C | |
| ENST00000256958.2:c.482-39A>C | ENSP00000256958.2:n.482-39A>C | |
| NM_006446.4:c.482-39A>C , LRG_1022t1:c.482-39A>C | NP_006437.3:n.482-39A>C | |
| NM_006446.5:c.482-39A>C MANE Select | NP_006437.3:n.482-39A>C |