Linked Data
gnomAD v4:
14-20454900-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.20454900C>A , CM000676.2:g.20454900C>A | GRCh38 |
| NC_000014.8:g.20923059C>A , CM000676.1:g.20923059C>A | GRCh37 |
| NC_000014.7:g.19992899C>A | NCBI36 |
| NG_008718.1:g.4770C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000206542.8:c.-217G>T | ENSP00000206542.4:n.-217G>T | |
| ENST00000556252.1:n.154G>T | ||
| ENST00000556439.1:n.190G>T | ||
| NM_017807.3:c.-217G>T | NP_060277.1:n.-217G>T | |
| XM_011536930.1:c.-278G>T | XP_011535232.1:n.-278G>T |