Linked Data
gnomAD v4:
8-47960205-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.47960205G>T , CM000670.2:g.47960205G>T | GRCh38 |
| NC_000008.10:g.48872765G>T , CM000670.1:g.48872765G>T | GRCh37 |
| NC_000008.9:g.49035318G>T | NCBI36 |
| NG_023435.1:g.4979C>A , LRG_162:g.4979C>A | |
| NG_032967.1:g.5003G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000518221.5:c.-130G>T | ENSP00000430329.1:n.-130G>T | |
| NM_005914.3:c.-940G>T | NP_005905.2:n.-940G>T | |
| NM_182746.2:c.-824G>T | NP_877423.1:n.-824G>T |