Linked Data
gnomAD v4:
11-116833006-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116833006A>G , CM000673.2:g.116833006A>G | GRCh38 |
| NC_000011.9:g.116703722A>G , CM000673.1:g.116703722A>G | GRCh37 |
| NC_000011.8:g.116208932A>G | NCBI36 |
| NG_008949.1:g.8099A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227667.8:c.*122A>G MANE Select | ENSP00000227667.2:n.*122A>G | |
| ENST00000227667.7:c.*122A>G | ENSP00000227667.2:n.*122A>G | |
| ENST00000375345.3:c.*122A>G | ENSP00000364494.1:n.*122A>G | |
| ENST00000630701.1:c.476A>G | ENSP00000486182.1:n.476A>G | |
| NM_000040.1:c.*122A>G | NP_000031.1:n.*122A>G | |
| NM_000040.2:c.*122A>G | NP_000031.1:n.*122A>G | |
| NM_000040.3:c.*122A>G MANE Select | NP_000031.1:n.*122A>G |