Linked Data
gnomAD v4:
14-74493448-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.74493448C>A , CM000676.2:g.74493448C>A | GRCh38 |
| NC_000014.8:g.74960151C>A , CM000676.1:g.74960151C>A | GRCh37 |
| NC_000014.7:g.74029904C>A | NCBI36 |
| NG_007117.1:g.4934G>T | |
| NG_033074.1:g.4729C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555592.1:c.-63-111G>T | ENSP00000450887.1:n.-63-111G>T | |
| ENST00000555619.5:c.-174G>T | ENSP00000451112.1:n.-174G>T | |
| ENST00000556009.5:c.147+583G>T | ||
| NM_001363688.1:c.-174G>T | NP_001350617.1:n.-174G>T | |
| NM_006432.4:c.-174G>T | NP_006423.1:n.-174G>T |