Linked Data
gnomAD v4:
21-43169023-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43169023T>C , CM000683.2:g.43169023T>C | GRCh38 |
| NG_009823.1:g.4993T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291554.6:c.-77T>C MANE Select | ENSP00000291554.2:n.-77T>C | |
| NM_000394.3:c.-77T>C | NP_000385.1:n.-77T>C | |
| XR_001755073.1:n.647+2014A>G | ||
| NM_000394.4:c.-77T>C MANE Select | NP_000385.1:n.-77T>C |