Linked Data
gnomAD v4:
4-185143333-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.185143333G>A , CM000666.2:g.185143333G>A | GRCh38 |
| NC_000004.11:g.186064487G>A , CM000666.1:g.186064487G>A | GRCh37 |
| NC_000004.10:g.186301481G>A | NCBI36 |
| NG_013001.1:g.5071G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281456.11:c.-40G>A MANE Select | ENSP00000281456.5:n.-40G>A | |
| ENST00000281456.10:c.-40G>A | ENSP00000281456.5:n.-40G>A | |
| ENST00000491736.1:c.-40G>A | ENSP00000476711.1:n.-40G>A | |
| NM_001151.3:c.-40G>A | NP_001142.2:n.-40G>A | |
| NM_001151.4:c.-40G>A MANE Select | NP_001142.2:n.-40G>A |