Linked Data
gnomAD v4:
12-71938858-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.71938858G>A , CM000674.2:g.71938858G>A | GRCh38 |
| NC_000012.11:g.72332638G>A , CM000674.1:g.72332638G>A | GRCh37 |
| NC_000012.10:g.70618905G>A | NCBI36 |
| NG_008279.1:g.5013G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000333850.4:c.-129G>A MANE Select | ENSP00000329093.3:n.-129G>A | |
| ENST00000333850.3:c.-129G>A | ENSP00000329093.3:n.-129G>A | |
| NM_173353.3:c.-129G>A | NP_775489.2:n.-129G>A | |
| NM_173353.4:c.-129G>A MANE Select | NP_775489.2:n.-129G>A |