Linked Data
dbSNP Id:
rs761625139
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.128891694T>G , CM000673.2:g.128891694T>G | GRCh38 |
| NC_000011.9:g.128761589T>G , CM000673.1:g.128761589T>G | GRCh37 |
| NC_000011.8:g.128266799T>G | NCBI36 |
| NG_023406.2:g.5277T>G , LRG_333:g.5277T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529694.6:c.-38T>G MANE Select | ENSP00000433295.1:n.-38T>G | |
| ENST00000338350.4:c.-127T>G | ENSP00000339960.4:n.-127T>G | |
| ENST00000529694.5:c.-38T>G | ENSP00000433295.1:n.-38T>G | |
| NM_000890.3:c.-38T>G , LRG_333t1:c.-38T>G | NP_000881.3:n.-38T>G | |
| NM_000890.4:c.-38T>G | NP_000881.3:n.-38T>G | |
| NM_001354169.1:c.-127T>G | NP_001341098.1:n.-127T>G | |
| NM_000890.5:c.-38T>G MANE Select | NP_000881.3:n.-38T>G | |
| NM_001354169.2:c.-127T>G | NP_001341098.1:n.-127T>G |