Linked Data
gnomAD v4:
12-71938846-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.71938846C>A , CM000674.2:g.71938846C>A | GRCh38 |
| NC_000012.11:g.72332626C>A , CM000674.1:g.72332626C>A | GRCh37 |
| NC_000012.10:g.70618893C>A | NCBI36 |
| NG_008279.1:g.5001C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000333850.4:c.-141C>A MANE Select | ENSP00000329093.3:n.-141C>A | |
| ENST00000333850.3:c.-141C>A | ENSP00000329093.3:n.-141C>A | |
| NM_173353.3:c.-141C>A | NP_775489.2:n.-141C>A | |
| NM_173353.4:c.-141C>A MANE Select | NP_775489.2:n.-141C>A |