Linked Data
gnomAD v4:
8-47960255-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.47960255C>A , CM000670.2:g.47960255C>A | GRCh38 |
| NC_000008.10:g.48872815C>A , CM000670.1:g.48872815C>A | GRCh37 |
| NC_000008.9:g.49035368C>A | NCBI36 |
| NG_023435.1:g.4929G>T , LRG_162:g.4929G>T | |
| NG_032967.1:g.5053C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000518221.5:c.-80C>A | ENSP00000430329.1:n.-80C>A | |
| NM_005914.3:c.-890C>A | NP_005905.2:n.-890C>A | |
| NM_182746.2:c.-774C>A | NP_877423.1:n.-774C>A |