Linked Data
gnomAD v4:
11-128891504-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.128891504G>T , CM000673.2:g.128891504G>T | GRCh38 |
| NC_000011.9:g.128761399G>T , CM000673.1:g.128761399G>T | GRCh37 |
| NC_000011.8:g.128266609G>T | NCBI36 |
| NG_023406.2:g.5087G>T , LRG_333:g.5087G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529694.6:c.-228G>T MANE Select | ENSP00000433295.1:n.-228G>T | |
| ENST00000338350.4:c.-317G>T | ENSP00000339960.4:n.-317G>T | |
| ENST00000529694.5:c.-228G>T | ENSP00000433295.1:n.-228G>T | |
| NM_000890.3:c.-228G>T , LRG_333t1:c.-228G>T | NP_000881.3:n.-228G>T | |
| NM_000890.4:c.-228G>T | NP_000881.3:n.-228G>T | |
| NM_001354169.1:c.-317G>T | NP_001341098.1:n.-317G>T | |
| NM_000890.5:c.-228G>T MANE Select | NP_000881.3:n.-228G>T | |
| NM_001354169.2:c.-317G>T | NP_001341098.1:n.-317G>T |