Linked Data
gnomAD v4:
15-80152857-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80152857A>C , CM000677.2:g.80152857A>C | GRCh38 |
| NC_000015.9:g.80445199A>C , CM000677.1:g.80445199A>C | GRCh37 |
| NC_000015.8:g.78232254A>C | NCBI36 |
| NG_012833.1:g.4859A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558767.6:c.-198A>C | ENSP00000507680.1:n.-198A>C | |
| ENST00000261755.9:c.-30+16A>C | ENSP00000261755.5:n.-30+16A>C | |
| ENST00000407106.5:c.-78A>C | ENSP00000385080.1:n.-78A>C | |
| ENST00000537726.5:n.53+16A>C | ||
| ENST00000558022.5:c.-29-169A>C | ENSP00000453152.1:n.-29-169A>C | |
| ENST00000558767.5:n.64A>C | ||
| ENST00000561369.1:n.3A>C | ||
| XM_024449872.1:c.-78A>C | XP_024305640.1:n.-78A>C | |
| NM_001374377.1:c.-78A>C | NP_001361306.1:n.-78A>C | |
| NM_001374380.1:c.-30+16A>C | NP_001361309.1:n.-30+16A>C |