Linked Data
gnomAD v4:
4-46927650-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.46927650A>C , CM000666.2:g.46927650A>C | GRCh38 |
| NC_000004.11:g.46929667A>C , CM000666.1:g.46929667A>C | GRCh37 |
| NC_000004.10:g.46624424A>C | NCBI36 |
| NG_011809.1:g.70914T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264318.4:c.*575T>G MANE Select | ENSP00000264318.3:n.*575T>G | |
| ENST00000264318.3:c.*575T>G | ENSP00000264318.3:n.*575T>G | |
| NM_000809.3:c.*575T>G | NP_000800.2:n.*575T>G | |
| NM_001204266.1:c.*575T>G | NP_001191195.1:n.*575T>G | |
| NM_001204267.1:c.*575T>G | NP_001191196.1:n.*575T>G | |
| XM_011513677.1:c.*575T>G | XP_011511979.1:n.*575T>G | |
| NM_000809.4:c.*575T>G MANE Select | NP_000800.2:n.*575T>G | |
| NM_001204266.2:c.*575T>G | NP_001191195.1:n.*575T>G | |
| NM_001204267.2:c.*575T>G | NP_001191196.1:n.*575T>G |