Linked Data
gnomAD v4:
3-48467807-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.48467807A>C , CM000665.2:g.48467807A>C | GRCh38 |
| NC_000003.11:g.48509206A>C , CM000665.1:g.48509206A>C | GRCh37 |
| NC_000003.10:g.48484210A>C | NCBI36 |
| NG_009820.1:g.6978A>C | |
| NG_033100.1:g.38054T>G | |
| NG_009820.2:g.6978A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296444.6:c.*1300T>G | ENSP00000296444.2:n.*1300T>G | |
| ENST00000619810.4:c.*1300T>G | ENSP00000484992.1:n.*1300T>G | |
| NM_001272065.1:c.*1300T>G | NP_001258994.1:n.*1300T>G | |
| NM_001272066.1:c.*1300T>G | NP_001258995.1:n.*1300T>G | |
| NM_001272067.1:c.*1300T>G | NP_001258996.1:n.*1300T>G | |
| NM_001272068.1:c.*1300T>G | NP_001258997.1:n.*1300T>G | |
| NM_001272082.1:c.*1300T>G | NP_001259011.1:n.*1300T>G | |
| NM_001272083.1:c.*1531T>G | NP_001259012.1:n.*1531T>G | |
| NM_016479.4:c.*1300T>G | NP_057563.3:n.*1300T>G |