Linked Data
gnomAD v4:
14-76371263-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.76371263G>A , CM000676.2:g.76371263G>A | GRCh38 |
| NC_000014.8:g.76837606G>A , CM000676.1:g.76837606G>A | GRCh37 |
| NC_000014.7:g.75907359G>A | NCBI36 |
| NG_012278.1:g.4917G>A | |
| NG_012278.2:g.4917G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000512784.6:c.2+60347G>A | ENSP00000424992.2:n.2+60347G>A | |
| ENST00000505752.5:c.-455G>A | ENSP00000423004.1:n.-455G>A | |
| ENST00000512784.5:c.2+60347G>A | ENSP00000424992.1:n.2+60347G>A |