Linked Data
gnomAD v4:
8-47960281-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.47960281T>C , CM000670.2:g.47960281T>C | GRCh38 |
| NC_000008.10:g.48872841T>C , CM000670.1:g.48872841T>C | GRCh37 |
| NC_000008.9:g.49035394T>C | NCBI36 |
| NG_023435.1:g.4903A>G , LRG_162:g.4903A>G | |
| NG_032967.1:g.5079T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000518221.5:c.-54T>C | ENSP00000430329.1:n.-54T>C | |
| NM_005914.3:c.-864T>C | NP_005905.2:n.-864T>C | |
| NM_182746.2:c.-748T>C | NP_877423.1:n.-748T>C | |
| XM_005251234.1:c.-1110T>C | XP_005251291.1:n.-1110T>C |