Linked Data
gnomAD v4:
9-21140705-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.21140705T>C , CM000671.2:g.21140705T>C | GRCh38 |
| NC_000009.11:g.21140704T>C , CM000671.1:g.21140704T>C | GRCh37 |
| NC_000009.10:g.21130704T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380229.4:c.*278A>G MANE Select | ENSP00000369578.2:n.*278A>G | |
| ENST00000380229.3:c.*278A>G | ENSP00000369578.2:n.*278A>G | |
| NM_002177.1:c.*278A>G | NP_002168.1:n.*278A>G | |
| NM_002177.2:c.*278A>G | NP_002168.1:n.*278A>G | |
| NM_002177.3:c.*278A>G MANE Select | NP_002168.1:n.*278A>G |