Linked Data
gnomAD v4:
14-20454867-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.20454867G>T , CM000676.2:g.20454867G>T | GRCh38 |
| NC_000014.8:g.20923026G>T , CM000676.1:g.20923026G>T | GRCh37 |
| NC_000014.7:g.19992866G>T | NCBI36 |
| NG_008718.1:g.4737G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000206542.8:c.-184C>A | ENSP00000206542.4:n.-184C>A | |
| ENST00000556252.1:n.187C>A | ||
| ENST00000556439.1:n.223C>A | ||
| NM_017807.3:c.-184C>A | NP_060277.1:n.-184C>A | |
| XM_011536930.1:c.-245C>A | XP_011535232.1:n.-245C>A |