Linked Data
gnomAD v4:
13-48037685-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48037685C>T , CM000675.2:g.48037685C>T | GRCh38 |
| NC_000013.10:g.48611821C>T , CM000675.1:g.48611821C>T | GRCh37 |
| NC_000013.9:g.47509822C>T | NCBI36 |
| NG_047021.1:g.5119C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000643246.1:c.-242G>A (SUCLA2) | ENSP00000496235.1:n.-242G>A | |
| ENST00000646804.1:c.-164G>A (SUCLA2) | ENSP00000493977.1:n.-164G>A | |
| ENST00000258662.2:c.-62C>T (NUDT15) | ENSP00000258662.1:n.-62C>T | |
| NM_001304745.1:c.-62C>T (NUDT15) | NP_001291674.1:n.-62C>T | |
| NM_018283.2:c.-62C>T (NUDT15) | NP_060753.1:n.-62C>T | |
| NM_018283.3:c.-62C>T (NUDT15) | NP_060753.1:n.-62C>T | |
| NR_136687.1:n.119C>T (NUDT15) | ||
| NR_136688.1:n.119C>T (NUDT15) |