Linked Data
gnomAD v4:
21-43169074-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43169074A>G , CM000683.2:g.43169074A>G | GRCh38 |
| NG_009823.1:g.5044A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291554.6:c.-26A>G MANE Select | ENSP00000291554.2:n.-26A>G | |
| NM_000394.3:c.-26A>G | NP_000385.1:n.-26A>G | |
| XR_001755073.1:n.647+1963T>C | ||
| NM_000394.4:c.-26A>G MANE Select | NP_000385.1:n.-26A>G |