Linked Data
gnomAD v4:
14-60649567-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.60649567G>C , CM000676.2:g.60649567G>C | GRCh38 |
| NC_000014.8:g.61116285G>C , CM000676.1:g.61116285G>C | GRCh37 |
| NC_000014.7:g.60186038G>C | NCBI36 |
| NG_008231.1:g.4871C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553535.2:n.248+2368C>G | ||
| ENST00000554986.2:c.42-2990C>G | ENSP00000452700.2:n.42-2990C>G | |
| ENST00000555955.3:n.1197+2368C>G |