Linked Data
gnomAD v4:
21-43169015-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43169015G>A , CM000683.2:g.43169015G>A | GRCh38 |
| NG_009823.1:g.4985G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291554.6:c.-85G>A MANE Select | ENSP00000291554.2:n.-85G>A | |
| NM_000394.3:c.-85G>A | NP_000385.1:n.-85G>A | |
| XR_001755073.1:n.647+2022C>T | ||
| NM_000394.4:c.-85G>A MANE Select | NP_000385.1:n.-85G>A |