Linked Data
gnomAD v4:
14-74493553-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.74493553C>T , CM000676.2:g.74493553C>T | GRCh38 |
| NC_000014.8:g.74960256C>T , CM000676.1:g.74960256C>T | GRCh37 |
| NC_000014.7:g.74030009C>T | NCBI36 |
| NG_007117.1:g.4829G>A | |
| NG_033074.1:g.4834C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555592.1:c.-64+17G>A | ENSP00000450887.1:n.-64+17G>A | |
| ENST00000556009.5:c.147+478G>A |