Linked Data
gnomAD v4:
14-76371288-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.76371288C>A , CM000676.2:g.76371288C>A | GRCh38 |
| NC_000014.8:g.76837631C>A , CM000676.1:g.76837631C>A | GRCh37 |
| NC_000014.7:g.75907384C>A | NCBI36 |
| NG_012278.1:g.4942C>A | |
| NG_012278.2:g.4942C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000512784.6:c.2+60372C>A | ENSP00000424992.2:n.2+60372C>A | |
| ENST00000505752.5:c.-430C>A | ENSP00000423004.1:n.-430C>A | |
| ENST00000512784.5:c.2+60372C>A | ENSP00000424992.1:n.2+60372C>A | |
| NM_004452.4:c.-430C>A | NP_004443.3:n.-430C>A |