Linked Data
gnomAD v4:
14-76371279-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.76371279T>C , CM000676.2:g.76371279T>C | GRCh38 |
| NC_000014.8:g.76837622T>C , CM000676.1:g.76837622T>C | GRCh37 |
| NC_000014.7:g.75907375T>C | NCBI36 |
| NG_012278.1:g.4933T>C | |
| NG_012278.2:g.4933T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000512784.6:c.2+60363T>C | ENSP00000424992.2:n.2+60363T>C | |
| ENST00000505752.5:c.-439T>C | ENSP00000423004.1:n.-439T>C | |
| ENST00000512784.5:c.2+60363T>C | ENSP00000424992.1:n.2+60363T>C | |
| NM_004452.4:c.-439T>C | NP_004443.3:n.-439T>C |