Linked Data
gnomAD v4:
11-128891387-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.128891387G>A , CM000673.2:g.128891387G>A | GRCh38 |
| NC_000011.9:g.128761282G>A , CM000673.1:g.128761282G>A | GRCh37 |
| NC_000011.8:g.128266492G>A | NCBI36 |
| NG_023406.2:g.4970G>A , LRG_333:g.4970G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529694.6:c.-345G>A MANE Select | ENSP00000433295.1:n.-345G>A | |
| ENST00000529694.5:c.-345G>A | ENSP00000433295.1:n.-345G>A | |
| NM_000890.4:c.-345G>A | NP_000881.3:n.-345G>A | |
| NM_001354169.1:c.-434G>A | NP_001341098.1:n.-434G>A | |
| NM_000890.5:c.-345G>A MANE Select | NP_000881.3:n.-345G>A | |
| NM_001354169.2:c.-434G>A | NP_001341098.1:n.-434G>A |