Linked Data
gnomAD v4:
11-128891416-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.128891416A>G , CM000673.2:g.128891416A>G | GRCh38 |
| NC_000011.9:g.128761311A>G , CM000673.1:g.128761311A>G | GRCh37 |
| NC_000011.8:g.128266521A>G | NCBI36 |
| NG_023406.2:g.4999A>G , LRG_333:g.4999A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529694.6:c.-316A>G MANE Select | ENSP00000433295.1:n.-316A>G | |
| ENST00000529694.5:c.-316A>G | ENSP00000433295.1:n.-316A>G | |
| NM_000890.4:c.-316A>G | NP_000881.3:n.-316A>G | |
| NM_001354169.1:c.-405A>G | NP_001341098.1:n.-405A>G | |
| NM_000890.5:c.-316A>G MANE Select | NP_000881.3:n.-316A>G | |
| NM_001354169.2:c.-405A>G | NP_001341098.1:n.-405A>G |