Linked Data
gnomAD v4:
8-47960287-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.47960287T>G , CM000670.2:g.47960287T>G | GRCh38 |
| NC_000008.10:g.48872847T>G , CM000670.1:g.48872847T>G | GRCh37 |
| NC_000008.9:g.49035400T>G | NCBI36 |
| NG_023435.1:g.4897A>C , LRG_162:g.4897A>C | |
| NG_032967.1:g.5085T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000518221.5:c.-48T>G | ENSP00000430329.1:n.-48T>G | |
| NM_005914.3:c.-858T>G | NP_005905.2:n.-858T>G | |
| NM_182746.2:c.-742T>G | NP_877423.1:n.-742T>G | |
| XM_005251234.1:c.-1104T>G | XP_005251291.1:n.-1104T>G |