Linked Data
gnomAD v4:
14-20454830-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.20454830A>T , CM000676.2:g.20454830A>T | GRCh38 |
| NC_000014.8:g.20922989A>T , CM000676.1:g.20922989A>T | GRCh37 |
| NC_000014.7:g.19992829A>T | NCBI36 |
| NG_008718.1:g.4700A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000206542.8:c.-147T>A | ENSP00000206542.4:n.-147T>A | |
| ENST00000556252.1:n.224T>A | ||
| ENST00000556439.1:n.260T>A | ||
| NM_017807.3:c.-147T>A | NP_060277.1:n.-147T>A | |
| XM_011536930.1:c.-208T>A | XP_011535232.1:n.-208T>A | |
| XM_011536931.1:c.-443T>A | XP_011535233.1:n.-443T>A |