Linked Data
gnomAD v4:
10-94852982-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94852982A>C , CM000672.2:g.94852982A>C | GRCh38 |
| NC_000010.10:g.96612739A>C , CM000672.1:g.96612739A>C | GRCh37 |
| NC_000010.9:g.96602729A>C | NCBI36 |
| NG_008384.2:g.95277A>C | |
| NG_008384.3:g.95302A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.*68A>C MANE Select | ENSP00000360372.3:n.*68A>C | |
| ENST00000645461.1:n.2452A>C | ||
| ENST00000371321.7:c.*68A>C | ENSP00000360372.3:n.*68A>C | |
| ENST00000464755.1:c.2304A>C | ENSP00000483243.1:n.2304A>C | |
| NM_000769.2:c.*68A>C | NP_000760.1:n.*68A>C | |
| NM_000769.4:c.*68A>C MANE Select | NP_000760.1:n.*68A>C |