Linked Data
gnomAD v4:
20-6770123-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.6770123G>A , CM000682.2:g.6770123G>A | GRCh38 |
| NC_000020.10:g.6750770G>A , CM000682.1:g.6750770G>A | GRCh37 |
| NC_000020.9:g.6698770G>A | NCBI36 |
| NG_023233.1:g.7026G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378827.5:c.-4G>A MANE Select | ENSP00000368104.3:n.-4G>A | |
| ENST00000378827.4:c.-4G>A | ENSP00000368104.3:n.-4G>A | |
| NM_001200.2:c.-4G>A | NP_001191.1:n.-4G>A | |
| XM_011529323.1:c.-123+1248G>A | XP_011527625.1:n.-123+1248G>A | |
| NM_001200.3:c.-4G>A | NP_001191.1:n.-4G>A | |
| NM_001200.4:c.-4G>A MANE Select | NP_001191.1:n.-4G>A |