Linked Data
gnomAD v4:
13-48037691-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48037691A>G , CM000675.2:g.48037691A>G | GRCh38 |
| NC_000013.10:g.48611827A>G , CM000675.1:g.48611827A>G | GRCh37 |
| NC_000013.9:g.47509828A>G | NCBI36 |
| NG_047021.1:g.5125A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000643246.1:c.-248T>C (SUCLA2) | ENSP00000496235.1:n.-248T>C | |
| ENST00000646804.1:c.-170T>C (SUCLA2) | ENSP00000493977.1:n.-170T>C | |
| ENST00000258662.2:c.-56A>G (NUDT15) | ENSP00000258662.1:n.-56A>G | |
| NM_001304745.1:c.-56A>G (NUDT15) | NP_001291674.1:n.-56A>G | |
| NM_018283.2:c.-56A>G (NUDT15) | NP_060753.1:n.-56A>G | |
| NM_018283.3:c.-56A>G (NUDT15) | NP_060753.1:n.-56A>G | |
| NR_136687.1:n.125A>G (NUDT15) | ||
| NR_136688.1:n.125A>G (NUDT15) |