Linked Data
gnomAD v4:
5-119452480-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.119452480C>A , CM000667.2:g.119452480C>A | GRCh38 |
| NC_000005.9:g.118788175C>A , CM000667.1:g.118788175C>A | GRCh37 |
| NC_000005.8:g.118816074C>A | NCBI36 |
| NG_008182.1:g.5028C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000509514.6:c.-96C>A | ENSP00000426272.2:n.-96C>A | |
| ENST00000682996.1:c.-96C>A | ENSP00000507792.1:n.-96C>A | |
| ENST00000683936.1:c.-96C>A | ENSP00000507721.1:n.-96C>A | |
| ENST00000684214.1:c.-96C>A | ENSP00000508071.1:n.-96C>A | |
| ENST00000256216.10:c.-96C>A | ENSP00000256216.6:n.-96C>A | |
| ENST00000511186.5:n.8C>A | ||
| NM_000414.3:c.-96C>A | NP_000405.1:n.-96C>A | |
| NM_001199292.1:c.-96C>A | NP_001186221.1:n.-96C>A | |
| NM_001292027.1:c.-233C>A | NP_001278956.1:n.-233C>A |