Linked Data
dbSNP Id:
rs1422074325
gnomAD v2:
13-48611820-C-T
gnomAD v3:
13-48037684-C-T
gnomAD v4:
13-48037684-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48037684C>T , CM000675.2:g.48037684C>T | GRCh38 |
| NC_000013.10:g.48611820C>T , CM000675.1:g.48611820C>T | GRCh37 |
| NC_000013.9:g.47509821C>T | NCBI36 |
| NG_047021.1:g.5118C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000643246.1:c.-241G>A (SUCLA2) | ENSP00000496235.1:n.-241G>A | |
| ENST00000646804.1:c.-163G>A (SUCLA2) | ENSP00000493977.1:n.-163G>A | |
| ENST00000258662.2:c.-63C>T (NUDT15) | ENSP00000258662.1:n.-63C>T | |
| NM_001304745.1:c.-63C>T (NUDT15) | NP_001291674.1:n.-63C>T | |
| NM_018283.2:c.-63C>T (NUDT15) | NP_060753.1:n.-63C>T | |
| NM_018283.3:c.-63C>T (NUDT15) | NP_060753.1:n.-63C>T | |
| NR_136687.1:n.118C>T (NUDT15) | ||
| NR_136688.1:n.118C>T (NUDT15) |