Linked Data
gnomAD v4:
6-31269099-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31269099A>C , CM000668.2:g.31269099A>C | GRCh38 |
| NC_000006.11:g.31236876A>C , CM000668.1:g.31236876A>C | GRCh37 |
| NC_000006.10:g.31344855A>C | NCBI36 |
| NG_029422.2:g.8033T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.*70T>G MANE Select | ENSP00000365402.5:n.*70T>G | |
| ENST00000376228.9:c.*70T>G | ENSP00000365402.5:n.*70T>G | |
| ENST00000376237.8:c.*758T>G | ENSP00000365412.4:n.*758T>G | |
| ENST00000383329.7:c.*70T>G | ENSP00000372819.3:n.*70T>G | |
| ENST00000466892.5:n.404T>G | ||
| ENST00000470363.5:n.929T>G | ||
| ENST00000487245.5:n.1530T>G | ||
| NM_002117.5:c.*70T>G | NP_002108.4:n.*70T>G | |
| NM_002117.6:c.*70T>G MANE Select | NP_002108.4:n.*70T>G |