Linked Data
gnomAD v4:
4-73442271-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73442271C>A , CM000666.2:g.73442271C>A | GRCh38 |
| NC_000004.11:g.74307988C>A , CM000666.1:g.74307988C>A | GRCh37 |
| NC_000004.10:g.74526852C>A | NCBI36 |
| NG_023028.1:g.11056C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395792.7:c.483-25C>A MANE Select | ENSP00000379138.2:n.483-25C>A | |
| ENST00000226359.2:c.483-25C>A | ENSP00000226359.2:n.483-25C>A | |
| ENST00000395792.6:c.483-25C>A | ENSP00000379138.2:n.483-25C>A | |
| NM_001134.2:c.483-25C>A | NP_001125.1:n.483-25C>A | |
| XM_011531704.1:c.480-25C>A | XP_011530006.1:n.480-25C>A | |
| NM_001354717.1:c.9-25C>A | NP_001341646.1:n.9-25C>A | |
| NM_001134.3:c.483-25C>A MANE Select | NP_001125.1:n.483-25C>A | |
| NM_001354717.2:c.9-25C>A | NP_001341646.2:n.9-25C>A |