Linked Data
gnomAD v4:
8-47960241-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.47960241C>T , CM000670.2:g.47960241C>T | GRCh38 |
| NC_000008.10:g.48872801C>T , CM000670.1:g.48872801C>T | GRCh37 |
| NC_000008.9:g.49035354C>T | NCBI36 |
| NG_023435.1:g.4943G>A , LRG_162:g.4943G>A | |
| NG_032967.1:g.5039C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000518221.5:c.-94C>T | ENSP00000430329.1:n.-94C>T | |
| NM_005914.3:c.-904C>T | NP_005905.2:n.-904C>T | |
| NM_182746.2:c.-788C>T | NP_877423.1:n.-788C>T |