Linked Data
gnomAD v4:
21-43169380-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43169380G>C , CM000683.2:g.43169380G>C | GRCh38 |
| NG_009823.1:g.5350G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291554.6:c.189+92G>C MANE Select | ENSP00000291554.2:n.189+92G>C | |
| ENST00000482775.1:n.202+92G>C | ||
| NM_000394.3:c.189+92G>C | NP_000385.1:n.189+92G>C | |
| XR_001755073.1:n.647+1657C>G | ||
| NM_000394.4:c.189+92G>C MANE Select | NP_000385.1:n.189+92G>C |