Linked Data
gnomAD v4:
16-82148414-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.82148414A>G , CM000678.2:g.82148414A>G | GRCh38 |
| NC_000016.9:g.82182019A>G , CM000678.1:g.82182019A>G | GRCh37 |
| NC_000016.8:g.80739520A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258169.9:c.*317T>C MANE Select | ENSP00000258169.4:n.*317T>C | |
| ENST00000258169.8:c.*317T>C | ENSP00000258169.4:n.*317T>C | |
| ENST00000563100.5:c.*72+245T>C | ENSP00000454996.1:n.*72+245T>C | |
| NM_005792.2:c.*317T>C MANE Select | NP_005783.2:n.*317T>C | |
| XM_011522808.1:c.*317T>C | XP_011521110.1:n.*317T>C | |
| XM_011522808.3:c.*317T>C | XP_011521110.1:n.*317T>C |