Linked Data
gnomAD v4:
12-5043954-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5043954G>A , CM000674.2:g.5043954G>A | GRCh38 |
| NC_000012.11:g.5153120G>A , CM000674.1:g.5153120G>A | GRCh37 |
| NC_000012.10:g.5023381G>A | NCBI36 |
| NG_012198.1:g.5036G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252321.5:c.-194G>A MANE Select | ENSP00000252321.3:n.-194G>A | |
| NM_002234.3:c.-194G>A | NP_002225.2:n.-194G>A | |
| NM_002234.4:c.-194G>A MANE Select | NP_002225.2:n.-194G>A |