Linked Data
gnomAD v4:
2-27323139-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27323139T>C , CM000664.2:g.27323139T>C | GRCh38 |
| NC_000002.11:g.27546006T>C , CM000664.1:g.27546006T>C | GRCh37 |
| NC_000002.10:g.27399510T>C | NCBI36 |
| NG_008075.1:g.4426A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357186.10:c.18+1294A>G | ENSP00000349713.6:n.18+1294A>G | |
| XM_005264327.2:c.-217A>G | XP_005264384.1:n.-217A>G |