Linked Data
dbSNP Id:
rs1246235916
gnomAD v2:
11-128761283-G-A
gnomAD v3:
11-128891388-G-A
gnomAD v4:
11-128891388-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.128891388G>A , CM000673.2:g.128891388G>A | GRCh38 |
| NC_000011.9:g.128761283G>A , CM000673.1:g.128761283G>A | GRCh37 |
| NC_000011.8:g.128266493G>A | NCBI36 |
| NG_023406.2:g.4971G>A , LRG_333:g.4971G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529694.6:c.-344G>A MANE Select | ENSP00000433295.1:n.-344G>A | |
| ENST00000529694.5:c.-344G>A | ENSP00000433295.1:n.-344G>A | |
| NM_000890.4:c.-344G>A | NP_000881.3:n.-344G>A | |
| NM_001354169.1:c.-433G>A | NP_001341098.1:n.-433G>A | |
| NM_000890.5:c.-344G>A MANE Select | NP_000881.3:n.-344G>A | |
| NM_001354169.2:c.-433G>A | NP_001341098.1:n.-433G>A |