Linked Data
gnomAD v4:
14-60649470-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.60649470G>T , CM000676.2:g.60649470G>T | GRCh38 |
| NC_000014.8:g.61116188G>T , CM000676.1:g.61116188G>T | GRCh37 |
| NC_000014.7:g.60185941G>T | NCBI36 |
| NG_008231.1:g.4968C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645694.3:c.-281C>A MANE Select | ENSP00000494686.1:n.-281C>A | |
| ENST00000553535.2:n.248+2465C>A | ||
| ENST00000554986.2:c.42-2893C>A | ENSP00000452700.2:n.42-2893C>A | |
| ENST00000555955.3:n.1197+2465C>A | ||
| XM_017021602.2:c.-281C>A | XP_016877091.1:n.-281C>A | |
| NM_005982.4:c.-281C>A MANE Select | NP_005973.1:n.-281C>A |