Linked Data
gnomAD v4:
5-119452496-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.119452496C>G , CM000667.2:g.119452496C>G | GRCh38 |
| NC_000005.9:g.118788191C>G , CM000667.1:g.118788191C>G | GRCh37 |
| NC_000005.8:g.118816090C>G | NCBI36 |
| NG_008182.1:g.5044C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000509514.6:c.-80C>G | ENSP00000426272.2:n.-80C>G | |
| ENST00000682996.1:c.-80C>G | ENSP00000507792.1:n.-80C>G | |
| ENST00000683936.1:c.-80C>G | ENSP00000507721.1:n.-80C>G | |
| ENST00000683974.1:n.3C>G | ||
| ENST00000684214.1:c.-80C>G | ENSP00000508071.1:n.-80C>G | |
| ENST00000256216.10:c.-80C>G | ENSP00000256216.6:n.-80C>G | |
| ENST00000511186.5:n.24C>G | ||
| NM_000414.3:c.-80C>G | NP_000405.1:n.-80C>G | |
| NM_001199292.1:c.-80C>G | NP_001186221.1:n.-80C>G | |
| NM_001292027.1:c.-217C>G | NP_001278956.1:n.-217C>G |