Linked Data
gnomAD v4:
15-80152872-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80152872G>C , CM000677.2:g.80152872G>C | GRCh38 |
| NC_000015.9:g.80445214G>C , CM000677.1:g.80445214G>C | GRCh37 |
| NC_000015.8:g.78232269G>C | NCBI36 |
| NG_012833.1:g.4874G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558767.6:c.-183G>C | ENSP00000507680.1:n.-183G>C | |
| ENST00000261755.9:c.-30+31G>C | ENSP00000261755.5:n.-30+31G>C | |
| ENST00000407106.5:c.-63G>C | ENSP00000385080.1:n.-63G>C | |
| ENST00000537726.5:n.53+31G>C | ||
| ENST00000558022.5:c.-29-154G>C | ENSP00000453152.1:n.-29-154G>C | |
| ENST00000558767.5:n.79G>C | ||
| ENST00000561369.1:n.18G>C | ||
| XM_024449872.1:c.-63G>C | XP_024305640.1:n.-63G>C | |
| NM_001374377.1:c.-63G>C | NP_001361306.1:n.-63G>C | |
| NM_001374380.1:c.-30+31G>C | NP_001361309.1:n.-30+31G>C |