Linked Data
gnomAD v4:
16-67164669-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67164669C>A , CM000678.2:g.67164669C>A | GRCh38 |
| NC_000016.9:g.67198572C>A , CM000678.1:g.67198572C>A | GRCh37 |
| NC_000016.8:g.65756073C>A | NCBI36 |
| NG_009294.1:g.6285C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000518227.1:c.500C>A | ||
| ENST00000518753.5:c.295+525C>A | ||
| ENST00000523360.1:n.349C>A | ||
| ENST00000580114.5:c.823C>A | ||
| NM_001040667.2:c.-143C>A | NP_001035757.1:n.-143C>A | |
| NM_001538.3:c.-143C>A | NP_001529.2:n.-143C>A | |
| NM_001040667.3:c.-143C>A | NP_001035757.1:n.-143C>A | |
| NM_001538.4:c.-143C>A | NP_001529.2:n.-143C>A |